Solitary Median Maxillary Central Incisor
A
full-term neonate was born by spontaneous vaginal delivery to healthy, non-consanguineous parents with Apgar scores of 8 and 9. Shortly after birth, she developed respiratory distress and hypoglycemia. Recurrent episodes of hypoglycemia and low cortisol levels led to the diagnosis of hypopituitarism due to hypoplastic adenohypophysis and ectopic neurohypophysis, including growth hormone deficiency, secondary adrenal insufficiency, and secondary hypothyroidism (Figure 1; available at www. jpeds.com). No further cerebral abnormalities were noted otherwise. Assessment of episodes of nasal congestion revealed a nasal septum perforation compatible with a congenital nasal pyriform aperture stenosis. In addition, echocardiography demonstrated an atrial septal defect. Chromosomal analysis revealed no pathologic findings.
Growth hormone and L-thyroxine supplementation was introduced, which resulted in satisfactory longitudinal growth. At age 16 months, the patient was hospitalized for a pulmonary infection. On examination of the oral cavity, we identified a single central incisor positioned at the maxillary midline (Figures 2 and 3; Figure 3 available at www.jpeds.com). A solitary median maxillary central incisor (SMMCI) is a rare malformation (incidence 1:50 000 live births), associated with defects of midline structures, including the craniofacial bones, nasal airways (choanal atresia, nasal pyriform aperture stenosis), and the brain (holoprosencephaly), along with an increased risk of pituitary malformation and malfunction.1 In rare cases, SMMCI may occur as an isolated trait. This observation is usually made by pediatric dentists and at an older age, prompting immediate assessment of pituitary function and central nervous system abnormalities. Pediatric endocrinologists should monitor the growth of affected children to facilitate early diagnosis and treatment of growth hormone deficiency. Cardiologic, otolaryngologic, and ophthalmologic assessment is also recommended. Of note, SMMCI may be present in both primary and permanent dentition. n
Eleni Z. Giannopoulou, MD Department of General Pediatrics and Neonatology
Tilman Rohrer, MD Paul Hoffmann, MD Department of Pediatric Endocrinology
Umut Yilmaz, MD Department of Neuroradiology
Ludwig Gortner, MD Department of General Pediatrics and Neonatology
Sascha Meyer, MD Department of Pediatric Neurology University Hospital of Saarland Homburg, Germany
Reference Figure 2. SMMCI at age 16 months.
J Pediatr 2015;167:770. 0022-3476/$ - see front matter. Copyright ª 2015 Elsevier Inc. All rights reserved. http://dx.doi.org/10.1016/j.jpeds.2015.06.010
770
1. Hall RK. Solitary median maxillary central incisor (SMMCI) syndrome. Orphanet J Rare Dis 2006;1:12.
Vol. 167, No. 3 September 2015
Figure 1. Sagittal T1 weighted magnetic resonance imaging shows an ectopic posterior pituitary (white arrow) and a small anterior pituitary (black arrow).
Figure 3. Axial T2 weighted magnetic resonance imaging at the level of the hard palate shows a SMMCI.
770.e1
A
full-term neonate was born by spontaneous vaginal delivery to healthy, non-consanguineous parents with Apgar scores of 8 and 9. Shortly after birth, she developed respiratory distress and hypoglycemia. Recurrent episodes of hypoglycemia and low cortisol levels led to the diagnosis of hypopituitarism due to hypoplastic adenohypophysis and ectopic neurohypophysis, including growth hormone deficiency, secondary adrenal insufficiency, and secondary hypothyroidism (Figure 1; available at www. jpeds.com). No further cerebral abnormalities were noted otherwise. Assessment of episodes of nasal congestion revealed a nasal septum perforation compatible with a congenital nasal pyriform aperture stenosis. In addition, echocardiography demonstrated an atrial septal defect. Chromosomal analysis revealed no pathologic findings.
Growth hormone and L-thyroxine supplementation was introduced, which resulted in satisfactory longitudinal growth. At age 16 months, the patient was hospitalized for a pulmonary infection. On examination of the oral cavity, we identified a single central incisor positioned at the maxillary midline (Figures 2 and 3; Figure 3 available at www.jpeds.com). A solitary median maxillary central incisor (SMMCI) is a rare malformation (incidence 1:50 000 live births), associated with defects of midline structures, including the craniofacial bones, nasal airways (choanal atresia, nasal pyriform aperture stenosis), and the brain (holoprosencephaly), along with an increased risk of pituitary malformation and malfunction.1 In rare cases, SMMCI may occur as an isolated trait. This observation is usually made by pediatric dentists and at an older age, prompting immediate assessment of pituitary function and central nervous system abnormalities. Pediatric endocrinologists should monitor the growth of affected children to facilitate early diagnosis and treatment of growth hormone deficiency. Cardiologic, otolaryngologic, and ophthalmologic assessment is also recommended. Of note, SMMCI may be present in both primary and permanent dentition. n
Eleni Z. Giannopoulou, MD Department of General Pediatrics and Neonatology
Tilman Rohrer, MD Paul Hoffmann, MD Department of Pediatric Endocrinology
Umut Yilmaz, MD Department of Neuroradiology
Ludwig Gortner, MD Department of General Pediatrics and Neonatology
Sascha Meyer, MD Department of Pediatric Neurology University Hospital of Saarland Homburg, Germany
Reference Figure 2. SMMCI at age 16 months.
J Pediatr 2015;167:770. 0022-3476/$ - see front matter. Copyright ª 2015 Elsevier Inc. All rights reserved. http://dx.doi.org/10.1016/j.jpeds.2015.06.010
770
1. Hall RK. Solitary median maxillary central incisor (SMMCI) syndrome. Orphanet J Rare Dis 2006;1:12.
Vol. 167, No. 3 September 2015
Figure 1. Sagittal T1 weighted magnetic resonance imaging shows an ectopic posterior pituitary (white arrow) and a small anterior pituitary (black arrow).
Figure 3. Axial T2 weighted magnetic resonance imaging at the level of the hard palate shows a SMMCI.
770.e1
