Eur Arch Paediatr Dent DOI 10.1007/s40368-015-0193-9
CASE REPORT
Orofacial manifestations and dental considerations in association with Varadi–Papp syndrome: report of a rare case N. Chhabra1 • A. Chhabra2 • S. Tandon3
Received: 15 April 2015 / Accepted: 1 June 2015 Ó European Academy of Paediatric Dentistry 2015
Abstract Varadi–Papp syndrome or oral–facial–digital syndrome type VI (OFDS VI) is a rare, autosomal recessive disorder characterised by a specific congenital malformation of the cerebellum and a broad spectrum of other phenotypic findings. It is distinguished from other OFDSs by metacarpal abnormalities with central polydactyly and by cerebellar abnormalities. Treatment for such patients is often considered challenging due to the presence of intellectual disability, hypotonia, and abnormal respiratory pattern in these patients. The present article reports the oral and systemic manifestations of a 5-year-old female patient having Varadi–Papp syndrome, considerations taken in her dental treatment and the successful management performed. The patient was followed up every 3 months for 2 years, to evaluate plaque control and to continue with the plaque control regimen. Periodic oral examinations and maintenance of good oral hygiene helped to improve the quality of life of the child. This case illustrates the favourable treatment outcomes in a Varadi–Papp syndrome patient. Furthermore, the need for periodic oral examinations and maintenance of good oral hygiene to prevent any complications in such patients has been highlighted.
Electronic supplementary material The online version of this article (doi:10.1007/s40368-015-0193-9) contains supplementary material, which is available to authorized users. & N. Chhabra [email protected] 1
Department of Pedodontics and Preventive Dentistry, Maulana Azad Institute of Dental Sciences, Delhi, India
2
Department of Dental Surgery, Safdarjang Hospital, Delhi, India
3
Department of Periodontics, Maulana Azad Institute of Dental Sciences, Delhi, India
Introduction Varadi–Papp syndrome is a rare autosomal recessive disorder that manifests with multiple malformations and refers to oral–facial–digital syndrome typed VI (OFDS VI) (Munke et al. 1990). The oral–facial–digital syndromes (OFDSs) comprise a group of disorders involving malformations of the mouth, face and digits (Varadi et al. 1980). Until date, 13 subtypes of the OFDS have been documented, and much overlap occurs among OFDS patients. OFDS VI occurs as part of a group of genetic conditions that result from an abnormality in cerebellar vermis (Varadi et al. 1980). The disorders that share this cerebellar malformation are known as Joubert syndrome and related disorders (JSRD). It is distinguished from other OFDSs by metacarpal abnormalities with central polydactyly and by cerebellar abnormalities in which there is an absence or underdevelopment of the cerebellum vermis of the brain (Brancati et al. 2010). Varadi–Papp syndrome was first identified by Varadi and Papp in 1978 (Varadi and Papp 2005). This syndrome has an autosomal recessive mode of inheritance (Varadi et al. 1980). Recently, it has been recognised that TMEM216 gene mutations are responsible for the occurrence of Varadi–Papp syndrome (Valente et al. 2010). Varadi–Papp syndrome is characterised by episodes of abnormal respiratory pattern (tachypnoea alternating with apnoea), oculomotor findings, digital abnormalities, hypotonia, ataxia, and developmental retardation with evidence of neuropathologic abnormalities of cerebellum and brainstem (Brancati et al. 2010). It is of dental interest because of its characteristic orofacial abnormalities, which include bucco-alveolar fraenula, cleft lip and/or palate, lingual nodule or tumour of the tongue, alveolar and dental
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abnormalities, facial dysmorphism and strabismus (Varadi et al. 1980; Munke et al. 1990). Treatment of dentofacial deformities in Varadi–Papp syndrome patients can be complex and challenging. Special precautions are mandatory during the dental management of Varadi–Papp syndrome children due to the presence of mental retardation, uncoordinated movements (ataxia), hypotonia, episodes of tachypnoea alternating with apnoea, presence of heart defects such as holes in the heart or malformations of the aorta in some subjects (Parisi et al. 2007; Brancati et al., 2010). There is a paucity of information on the dental manifestations and the dental treatment of Varadi–Papp syndrome patients. This case report illustrates the dentofacial and systemic features of Varadi–Papp syndrome, and highlights the special considerations to be taken in the dental management of such children.
Case report A 5-year-old girl with Varadi–Papp syndrome presented with pain predominantly in the mandibular anterior teeth. The parents also complained of difficulty in eating food.
Fig. 1 Extra-oral examination showing broad forehead, arched eyebrows, squint (left side), hypertelorism of eyes, prominent nasal bridge with anteverted nostrils and midline upper lip cleft
History
Intra-oral examination
Medical history depicted that the patient was a known case of Varadi–Papp syndrome. The patient was treated for the episodes of breathlessness at the time of birth. The pattern of breathing improved with age. Developmental delays and mental retardation were present with the child. The child was unable to speak. The family history did not reveal any similar complaint from his immediate or distant relatives. Parental consanguinity was present. Echocardiography, abdominal ultrasonography, especially of the kidney, ureter and bladder region, and ophthalmological examinations were found to be normal.
Intra-oral examination revealed a lobulated tongue (often described as soft-tissue nodules or multiple hamartomas), midline groove of the tongue, high-arched palate, and midline upper lip cleft. Extra strands of tissue between the gums, tongue and mouth (oral fraenula) were present, that were impairing the oral function. The enamel hypoplasia was present in all the primary teeth and root stumps of all the primary teeth existed. The primary teeth (71, 72, 73, 74, 81, 82, 83) were tender on percussion. Oral hygiene of the patient was found to be poor (Fig. 3). Radiographic examination
Extra-oral examination Extra-oral examination showed typical manifestations of Varadi–Papp syndrome such as broad forehead, prominent nasal bridge with anteverted nostrils, arched eyebrows, widely spaced eyes (hypertelorism), squint in the right eye and midline upper lip cleft (Fig. 1). In the extremities, preaxial as well as mes-axial polydactyly (extra fingers and/or toes) of both hands and pre-axial and post-axial polydactyly of both feet were noticed (Fig. 2). She had short stature/poor growth. The patient had difficulty in coordinating voluntary muscle movements, and uncoordinated movements (ataxia) were present.
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MRI scan showed an underdeveloped cerebellar vermis (hypoplasia) with non-fused cerebellar hemispheres, hypoplasia of the brainstem, ‘‘Molar Tooth’’ appearance of the lower midbrain and upper pons. The fourth ventricle was enlarged and had a bat wing appearance (Fig. 4). Based on history, clinical features and radiographic features, a diagnosis of Varadi–Papp syndrome or oral– facial–digital syndrome typed VI (OFDS VI) was confirmed. The treatment procedures were explained to the patient and her parents, and a written informed consent was obtained from them. Physician’s consent was obtained prior to the treatment.
Eur Arch Paediatr Dent
Fig. 2 Pre-axial as well as mes-axial polydactyly of both hands, pre-axial and post-axial polydactyly of both feet
Fig. 3 Intra-oral examination revealed lobulated tongue, midline groove of the tongue, high-arched palate and oral fraenula
Treatment
Discussion
A thorough plaque control regimen was followed to improve the oral hygiene of the child. Her parents were educated regarding good oral hygiene maintenance practices, and they were advised to brush her teeth twice a day. At the second appointment, the treatment comprised of extraction of root stumps of 71, 72, 73, 74, 81, 82, 83 as these were associated with pain (Fig. 5). Dental treatment was performed as planned under local analgesia. At the next appointment, after the administration of local analgesia, oral fraenula were removed with the Er,Cr:YSGG laser 2780 nm (Waterlase Millennium, Biolase technology-Irvine, CA, USA), so as to minimise the bleeding and pain, effective coagulation of the soft tissues, and better post-operative healing of the tissues (Fig. 5). The patient was followed-up every 3 months for 2 years (Fig. 6), to evaluate plaque control and to continue with the plaque control regimen. Periodic oral examinations and maintenance of good oral hygiene helped to improve the quality of life of the child.
To our knowledge, this is one of the very few clinical reports presenting the dentofacial findings, potential dental problems and its management in Varadi–Papp syndrome children. The present case focuses on the systemic and oral findings of a Varadi–Papp syndrome patient. Varadi–Papp syndrome is characterised by orofacial abnormalities (bucco-alveolar fraenula, cleft lip and/or palate, lingual nodule or tumour of the tongue, lobulated tongue, dental and alveolar abnormalities, facial dysmorphism, strabismus), cerebellar abnormalities (absence or dysgenesis of cerebellar vermis or corpus callosum or pituitary gland or hypothalamus), digital (metacarpal abnormalities with central polydactyly, duplication of great toes), and genital (micropenis, cryptorchidism) anomalies (Gleeson et al. 2004; Varadi and Papp 2005; Parisi et al. 2007; Brancati et al. 2010). In addition, hypotonia, ataxia, mental retardation, episodic tachypnoea alternating with apnoea, and ocular abnormalities may be present (Brancati et al. 2010).
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Fig. 4 Magnetic resonance imaging of the brain showing hypoplastic cerebellar vermis and enlarged fourth ventricle giving a bat wing appearance (on T1-W sagittal image), non-fused cerebellar
hemispheres, hypoplasia of the brainstem and ‘‘Molar Tooth’’ appearance of the lower midbrain and upper pons (on T1-W axial image)
Fig. 5 Extraction of root stumps in the upper and lower jaws and removal of oral fraenula with Er, Cr: YSGG laser
The subject in this case manifested the following characteristics: orofacial (broad forehead, right-sided squint, hypertelorism, arched eyebrows, nose with broad nasal base and anteverted nostrils, midline upper lip cleft, midline groove of tongue, lobulated tongue and high-arched
123
palate), digital (pre-axial as well as mes-axial polydactyly of both hands and pre-axial and post-axial polydactyly of both feet) and cerebellar (hypoplasia of the cerebellar hemispheres, vermis and brainstem, and characteristic ‘‘Molar Tooth’’ appearance of the lower midbrain and
Eur Arch Paediatr Dent
Fig. 6 Extra-oral and intra-oral photographs at 2 years follow-up
upper pons) anomalies, consistent with this syndrome (Chodirker et al. 2005; Varadi and Papp 2005). The abnormalities of respiratory control (episodic hyperpnoea that may be followed by apnoea), as was seen in this case, are likely to be due to hypoplasia of the cerebellar vermis and brainstem (Friede and Bolthauser 1978; Brancati et al. 2010). Thus, the children with Varadi–Papp syndrome have high sensitivity to the respiratory depressant effects of anaesthetic agents, including nitrous oxide. Taking this into consideration, it was decided to perform the treatment under local analgesia and to avoid the use of general anaesthesia. The presence of hypotonia in Varadi–Papp syndrome patients, as was seen in this case, is due to the absence or underdevelopment of part of the brain (cerebellum vermis) which controls balance and coordination (Varadi and Papp 2005; Parisi et al. 2007). As a result of the poor muscle tone, developmental delay (usually in gross motor, fine motor and speech areas) is common (Brancati et al. 2010). Since the mental retardation, decreased muscle tone (hypotonia) and ataxia were present in the child, active restraints were used to control the movements of the child and to safely provide the dental treatment. The extraction of root stumps was done under local analgesia as the patient had pain associated with them. The oral fraenula were removed as they impaired oral function. The treatment was performed with a laser to reduce the pain and bleeding during the treatment as well as to decrease the chair side time for the patient. The laser sterilises and cauterises the tissues while cutting them and the risk of infection during treatment is reduced. Moreover, the post-operative healing of the tissues is faster (Genovese and Olivi 2008). The use of opioids was avoided during and after the surgical procedures to prevent any apnoeic episode. Annual check-up is recommended to monitor for the complications associated with Varadi–Papp syndrome, such as vision loss or kidney or liver involvement, which may become progressive over time, although these were not present in our patient (Patra et al. 2013). Rehabilitation strategies must be planned for cognitive and behavioural difficulties
present in such patients (Brancati et al. 2010). Surgical removal of extra fingers and toes may be recommended, as was done in this case (Patra et al. 2013). The patient was referred to the speech therapist for oromotor dysfunction. The dental rehabilitation of patients with Varadi–Papp syndrome is a challenging task. Dental education regarding the oral hygiene practices and preventive strategies should be provided to the patient and parents as was done in this case to prevent later dental complications. It is quintessential for dentists to understand the potential risk factors and complications prior to sedation or general anaesthesia. The use of inhalational induction, controlled ventilation, use of regional or local analgesic techniques and avoidance of opioids, and close post-operative monitoring are recommended to detect any apnoeic episode (Habre et al. 1997).
Conclusion In this present case, treatment outcomes were favourable. Considering the complications that may emerge during the treatment of a patient with Varadi–Papp syndrome, it is pertinent that the dentists should be well acquainted with the marked features of this syndrome, as dental management is duly restricted by practical problems associated with this disease. Acknowledgement I would like to express my deep sense of gratitude and indebtedness to my staff members and colleagues for an unwavering support though out my work.
References Brancati F, Dallapiccola B, Valente EM. Joubert syndrome and related disorders. Orphanet J Rare Dis. 2010;5:1750–72. Chodirker BN, Shah NS, Bunge MK, Reed MH. Another case of Varadi- Papp syndrome with a molar tooth sign. Am J Med Genet A. 2005;136A(4):416–7.
123
Eur Arch Paediatr Dent Friede RL, Bolthauser E. Uncommon syndromes of cerebellar vermis aplasia: joubert syndrome. Dev Med Child Neurol. 1978;20:758–63. Genovese MD, Olivi G. Laser in paediatric dentistry: patient acceptance of hard and soft tissue therapy. Eur J Paediatr Dent. 2008;9(1):13–7. Gleeson JG, Keeler LC, Parisi MA, et al. Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes. Am J Med Genet A. 2004;125:125–34. Habre W, Sims C, D’Souza M. Anaesthetic management of children with Joubert syndrome. Paediatr Anaesth. 1997;7(3):251–3. Munke M, McDonald DM, Cronister A, et al. Oral-facial-digital syndrome type VI (Varadi Syndrome): further clinical delineation. Am J Med Genet. 1990;35:360–9. Parisi MA, Doherty D, Chance PF, Glass IA. Joubert syndrome (and related disorders) (OMIM 213300). Eur J Hum Genet. 2007;15:511–21.
123
Patra S, Purkait R, Samanta T, Bhadra R. Varadi Papp syndrome, an unusual variant of oral-facial-digital syndrome: report of a rare case. Ann Indian Acad Neurol. 2013;16:289–91. Valente EM, Logan CV, Mougou-Zerelli S, et al. Mutations in TMEM216 perturb ciliogenesis and cause Joubert Meckel and related syndromes. Nat Genet. 2010;42:619–25. Varadi V, Papp Z. 25 years’ history of Varadi Papp syndrome (orofaciodigital syndrome VI). Orv Hetil. 2005;146:2017–22. Varadi V, Szabo L, Papp Z. Syndrome of polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation in endogamic gypsies. J Med Genet. 1980;17:119–22.
CASE REPORT
Orofacial manifestations and dental considerations in association with Varadi–Papp syndrome: report of a rare case N. Chhabra1 • A. Chhabra2 • S. Tandon3
Received: 15 April 2015 / Accepted: 1 June 2015 Ó European Academy of Paediatric Dentistry 2015
Abstract Varadi–Papp syndrome or oral–facial–digital syndrome type VI (OFDS VI) is a rare, autosomal recessive disorder characterised by a specific congenital malformation of the cerebellum and a broad spectrum of other phenotypic findings. It is distinguished from other OFDSs by metacarpal abnormalities with central polydactyly and by cerebellar abnormalities. Treatment for such patients is often considered challenging due to the presence of intellectual disability, hypotonia, and abnormal respiratory pattern in these patients. The present article reports the oral and systemic manifestations of a 5-year-old female patient having Varadi–Papp syndrome, considerations taken in her dental treatment and the successful management performed. The patient was followed up every 3 months for 2 years, to evaluate plaque control and to continue with the plaque control regimen. Periodic oral examinations and maintenance of good oral hygiene helped to improve the quality of life of the child. This case illustrates the favourable treatment outcomes in a Varadi–Papp syndrome patient. Furthermore, the need for periodic oral examinations and maintenance of good oral hygiene to prevent any complications in such patients has been highlighted.
Electronic supplementary material The online version of this article (doi:10.1007/s40368-015-0193-9) contains supplementary material, which is available to authorized users. & N. Chhabra [email protected] 1
Department of Pedodontics and Preventive Dentistry, Maulana Azad Institute of Dental Sciences, Delhi, India
2
Department of Dental Surgery, Safdarjang Hospital, Delhi, India
3
Department of Periodontics, Maulana Azad Institute of Dental Sciences, Delhi, India
Introduction Varadi–Papp syndrome is a rare autosomal recessive disorder that manifests with multiple malformations and refers to oral–facial–digital syndrome typed VI (OFDS VI) (Munke et al. 1990). The oral–facial–digital syndromes (OFDSs) comprise a group of disorders involving malformations of the mouth, face and digits (Varadi et al. 1980). Until date, 13 subtypes of the OFDS have been documented, and much overlap occurs among OFDS patients. OFDS VI occurs as part of a group of genetic conditions that result from an abnormality in cerebellar vermis (Varadi et al. 1980). The disorders that share this cerebellar malformation are known as Joubert syndrome and related disorders (JSRD). It is distinguished from other OFDSs by metacarpal abnormalities with central polydactyly and by cerebellar abnormalities in which there is an absence or underdevelopment of the cerebellum vermis of the brain (Brancati et al. 2010). Varadi–Papp syndrome was first identified by Varadi and Papp in 1978 (Varadi and Papp 2005). This syndrome has an autosomal recessive mode of inheritance (Varadi et al. 1980). Recently, it has been recognised that TMEM216 gene mutations are responsible for the occurrence of Varadi–Papp syndrome (Valente et al. 2010). Varadi–Papp syndrome is characterised by episodes of abnormal respiratory pattern (tachypnoea alternating with apnoea), oculomotor findings, digital abnormalities, hypotonia, ataxia, and developmental retardation with evidence of neuropathologic abnormalities of cerebellum and brainstem (Brancati et al. 2010). It is of dental interest because of its characteristic orofacial abnormalities, which include bucco-alveolar fraenula, cleft lip and/or palate, lingual nodule or tumour of the tongue, alveolar and dental
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abnormalities, facial dysmorphism and strabismus (Varadi et al. 1980; Munke et al. 1990). Treatment of dentofacial deformities in Varadi–Papp syndrome patients can be complex and challenging. Special precautions are mandatory during the dental management of Varadi–Papp syndrome children due to the presence of mental retardation, uncoordinated movements (ataxia), hypotonia, episodes of tachypnoea alternating with apnoea, presence of heart defects such as holes in the heart or malformations of the aorta in some subjects (Parisi et al. 2007; Brancati et al., 2010). There is a paucity of information on the dental manifestations and the dental treatment of Varadi–Papp syndrome patients. This case report illustrates the dentofacial and systemic features of Varadi–Papp syndrome, and highlights the special considerations to be taken in the dental management of such children.
Case report A 5-year-old girl with Varadi–Papp syndrome presented with pain predominantly in the mandibular anterior teeth. The parents also complained of difficulty in eating food.
Fig. 1 Extra-oral examination showing broad forehead, arched eyebrows, squint (left side), hypertelorism of eyes, prominent nasal bridge with anteverted nostrils and midline upper lip cleft
History
Intra-oral examination
Medical history depicted that the patient was a known case of Varadi–Papp syndrome. The patient was treated for the episodes of breathlessness at the time of birth. The pattern of breathing improved with age. Developmental delays and mental retardation were present with the child. The child was unable to speak. The family history did not reveal any similar complaint from his immediate or distant relatives. Parental consanguinity was present. Echocardiography, abdominal ultrasonography, especially of the kidney, ureter and bladder region, and ophthalmological examinations were found to be normal.
Intra-oral examination revealed a lobulated tongue (often described as soft-tissue nodules or multiple hamartomas), midline groove of the tongue, high-arched palate, and midline upper lip cleft. Extra strands of tissue between the gums, tongue and mouth (oral fraenula) were present, that were impairing the oral function. The enamel hypoplasia was present in all the primary teeth and root stumps of all the primary teeth existed. The primary teeth (71, 72, 73, 74, 81, 82, 83) were tender on percussion. Oral hygiene of the patient was found to be poor (Fig. 3). Radiographic examination
Extra-oral examination Extra-oral examination showed typical manifestations of Varadi–Papp syndrome such as broad forehead, prominent nasal bridge with anteverted nostrils, arched eyebrows, widely spaced eyes (hypertelorism), squint in the right eye and midline upper lip cleft (Fig. 1). In the extremities, preaxial as well as mes-axial polydactyly (extra fingers and/or toes) of both hands and pre-axial and post-axial polydactyly of both feet were noticed (Fig. 2). She had short stature/poor growth. The patient had difficulty in coordinating voluntary muscle movements, and uncoordinated movements (ataxia) were present.
123
MRI scan showed an underdeveloped cerebellar vermis (hypoplasia) with non-fused cerebellar hemispheres, hypoplasia of the brainstem, ‘‘Molar Tooth’’ appearance of the lower midbrain and upper pons. The fourth ventricle was enlarged and had a bat wing appearance (Fig. 4). Based on history, clinical features and radiographic features, a diagnosis of Varadi–Papp syndrome or oral– facial–digital syndrome typed VI (OFDS VI) was confirmed. The treatment procedures were explained to the patient and her parents, and a written informed consent was obtained from them. Physician’s consent was obtained prior to the treatment.
Eur Arch Paediatr Dent
Fig. 2 Pre-axial as well as mes-axial polydactyly of both hands, pre-axial and post-axial polydactyly of both feet
Fig. 3 Intra-oral examination revealed lobulated tongue, midline groove of the tongue, high-arched palate and oral fraenula
Treatment
Discussion
A thorough plaque control regimen was followed to improve the oral hygiene of the child. Her parents were educated regarding good oral hygiene maintenance practices, and they were advised to brush her teeth twice a day. At the second appointment, the treatment comprised of extraction of root stumps of 71, 72, 73, 74, 81, 82, 83 as these were associated with pain (Fig. 5). Dental treatment was performed as planned under local analgesia. At the next appointment, after the administration of local analgesia, oral fraenula were removed with the Er,Cr:YSGG laser 2780 nm (Waterlase Millennium, Biolase technology-Irvine, CA, USA), so as to minimise the bleeding and pain, effective coagulation of the soft tissues, and better post-operative healing of the tissues (Fig. 5). The patient was followed-up every 3 months for 2 years (Fig. 6), to evaluate plaque control and to continue with the plaque control regimen. Periodic oral examinations and maintenance of good oral hygiene helped to improve the quality of life of the child.
To our knowledge, this is one of the very few clinical reports presenting the dentofacial findings, potential dental problems and its management in Varadi–Papp syndrome children. The present case focuses on the systemic and oral findings of a Varadi–Papp syndrome patient. Varadi–Papp syndrome is characterised by orofacial abnormalities (bucco-alveolar fraenula, cleft lip and/or palate, lingual nodule or tumour of the tongue, lobulated tongue, dental and alveolar abnormalities, facial dysmorphism, strabismus), cerebellar abnormalities (absence or dysgenesis of cerebellar vermis or corpus callosum or pituitary gland or hypothalamus), digital (metacarpal abnormalities with central polydactyly, duplication of great toes), and genital (micropenis, cryptorchidism) anomalies (Gleeson et al. 2004; Varadi and Papp 2005; Parisi et al. 2007; Brancati et al. 2010). In addition, hypotonia, ataxia, mental retardation, episodic tachypnoea alternating with apnoea, and ocular abnormalities may be present (Brancati et al. 2010).
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Fig. 4 Magnetic resonance imaging of the brain showing hypoplastic cerebellar vermis and enlarged fourth ventricle giving a bat wing appearance (on T1-W sagittal image), non-fused cerebellar
hemispheres, hypoplasia of the brainstem and ‘‘Molar Tooth’’ appearance of the lower midbrain and upper pons (on T1-W axial image)
Fig. 5 Extraction of root stumps in the upper and lower jaws and removal of oral fraenula with Er, Cr: YSGG laser
The subject in this case manifested the following characteristics: orofacial (broad forehead, right-sided squint, hypertelorism, arched eyebrows, nose with broad nasal base and anteverted nostrils, midline upper lip cleft, midline groove of tongue, lobulated tongue and high-arched
123
palate), digital (pre-axial as well as mes-axial polydactyly of both hands and pre-axial and post-axial polydactyly of both feet) and cerebellar (hypoplasia of the cerebellar hemispheres, vermis and brainstem, and characteristic ‘‘Molar Tooth’’ appearance of the lower midbrain and
Eur Arch Paediatr Dent
Fig. 6 Extra-oral and intra-oral photographs at 2 years follow-up
upper pons) anomalies, consistent with this syndrome (Chodirker et al. 2005; Varadi and Papp 2005). The abnormalities of respiratory control (episodic hyperpnoea that may be followed by apnoea), as was seen in this case, are likely to be due to hypoplasia of the cerebellar vermis and brainstem (Friede and Bolthauser 1978; Brancati et al. 2010). Thus, the children with Varadi–Papp syndrome have high sensitivity to the respiratory depressant effects of anaesthetic agents, including nitrous oxide. Taking this into consideration, it was decided to perform the treatment under local analgesia and to avoid the use of general anaesthesia. The presence of hypotonia in Varadi–Papp syndrome patients, as was seen in this case, is due to the absence or underdevelopment of part of the brain (cerebellum vermis) which controls balance and coordination (Varadi and Papp 2005; Parisi et al. 2007). As a result of the poor muscle tone, developmental delay (usually in gross motor, fine motor and speech areas) is common (Brancati et al. 2010). Since the mental retardation, decreased muscle tone (hypotonia) and ataxia were present in the child, active restraints were used to control the movements of the child and to safely provide the dental treatment. The extraction of root stumps was done under local analgesia as the patient had pain associated with them. The oral fraenula were removed as they impaired oral function. The treatment was performed with a laser to reduce the pain and bleeding during the treatment as well as to decrease the chair side time for the patient. The laser sterilises and cauterises the tissues while cutting them and the risk of infection during treatment is reduced. Moreover, the post-operative healing of the tissues is faster (Genovese and Olivi 2008). The use of opioids was avoided during and after the surgical procedures to prevent any apnoeic episode. Annual check-up is recommended to monitor for the complications associated with Varadi–Papp syndrome, such as vision loss or kidney or liver involvement, which may become progressive over time, although these were not present in our patient (Patra et al. 2013). Rehabilitation strategies must be planned for cognitive and behavioural difficulties
present in such patients (Brancati et al. 2010). Surgical removal of extra fingers and toes may be recommended, as was done in this case (Patra et al. 2013). The patient was referred to the speech therapist for oromotor dysfunction. The dental rehabilitation of patients with Varadi–Papp syndrome is a challenging task. Dental education regarding the oral hygiene practices and preventive strategies should be provided to the patient and parents as was done in this case to prevent later dental complications. It is quintessential for dentists to understand the potential risk factors and complications prior to sedation or general anaesthesia. The use of inhalational induction, controlled ventilation, use of regional or local analgesic techniques and avoidance of opioids, and close post-operative monitoring are recommended to detect any apnoeic episode (Habre et al. 1997).
Conclusion In this present case, treatment outcomes were favourable. Considering the complications that may emerge during the treatment of a patient with Varadi–Papp syndrome, it is pertinent that the dentists should be well acquainted with the marked features of this syndrome, as dental management is duly restricted by practical problems associated with this disease. Acknowledgement I would like to express my deep sense of gratitude and indebtedness to my staff members and colleagues for an unwavering support though out my work.
References Brancati F, Dallapiccola B, Valente EM. Joubert syndrome and related disorders. Orphanet J Rare Dis. 2010;5:1750–72. Chodirker BN, Shah NS, Bunge MK, Reed MH. Another case of Varadi- Papp syndrome with a molar tooth sign. Am J Med Genet A. 2005;136A(4):416–7.
123
Eur Arch Paediatr Dent Friede RL, Bolthauser E. Uncommon syndromes of cerebellar vermis aplasia: joubert syndrome. Dev Med Child Neurol. 1978;20:758–63. Genovese MD, Olivi G. Laser in paediatric dentistry: patient acceptance of hard and soft tissue therapy. Eur J Paediatr Dent. 2008;9(1):13–7. Gleeson JG, Keeler LC, Parisi MA, et al. Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes. Am J Med Genet A. 2004;125:125–34. Habre W, Sims C, D’Souza M. Anaesthetic management of children with Joubert syndrome. Paediatr Anaesth. 1997;7(3):251–3. Munke M, McDonald DM, Cronister A, et al. Oral-facial-digital syndrome type VI (Varadi Syndrome): further clinical delineation. Am J Med Genet. 1990;35:360–9. Parisi MA, Doherty D, Chance PF, Glass IA. Joubert syndrome (and related disorders) (OMIM 213300). Eur J Hum Genet. 2007;15:511–21.
123
Patra S, Purkait R, Samanta T, Bhadra R. Varadi Papp syndrome, an unusual variant of oral-facial-digital syndrome: report of a rare case. Ann Indian Acad Neurol. 2013;16:289–91. Valente EM, Logan CV, Mougou-Zerelli S, et al. Mutations in TMEM216 perturb ciliogenesis and cause Joubert Meckel and related syndromes. Nat Genet. 2010;42:619–25. Varadi V, Papp Z. 25 years’ history of Varadi Papp syndrome (orofaciodigital syndrome VI). Orv Hetil. 2005;146:2017–22. Varadi V, Szabo L, Papp Z. Syndrome of polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation in endogamic gypsies. J Med Genet. 1980;17:119–22.
