e u r o p e a n j o u r n a l o f p a e d i a t r i c n e u r o l o g y x x x ( 2 0 1 4 ) 1 e3
Official Journal of the European Paediatric Neurology Society
Case study
Posterior fossa syndrome in a patient with an ornithine transcarbamylase deficiency S.C.M. Nedermeijer a,*, J. van den Hout b, C. Geleijns b, H. de Klerk c, C.E. Catsman-Berrevoets b a
Department of Neurology, Sint Lucas Andreas Hospital, Amsterdam, Netherlands Department of Paediatric Neurology, Erasmus MC, Erasmus Universi-ty Hospital Rotterdam and Sophia Children's Hospital, Rotterdam, Netherlands c Centre for Lysosomal and Metabolic Diseases, Departments of Internal Med-icine and Pediatrics, Erasmus MC, Rotterdam, Netherlands b
article info
abstract
Article history:
The posterior fossa syndrome (PFS) is a well-known clinical entity and mainly occurs in
Received 2 October 2013
children. Ornithine transcarbamylase deficiency (OTC) is the most common urea cycle
Received in revised form
disorder, which occurs in an estimated 1 per 50.000 live births in Japan. Symptoms are
1 December 2014
mostly due to hyperammonemia and include nausea, vomiting, lethargia and even con-
Accepted 9 December 2014
vulsions and coma. Common neurological symptoms at presentation of a hyperammonemia are a decreased level of consciousness, abnormal motor function or seizures.
Keywords:
In this case we describe a girl with late onset OCT deficiency presenting with transient
OTC
mutism and subsequent dysarthria, ataxia and behavioural changes. This is an exceptional
Ornithine transcarbamylase defi-
report of a not yet described neurologic syndrome in OTC. Synopsis: Neurologic symptoms in ornithine transcarbamylase deficiency do not only
ciency Posterior fossa syndrome
occur during an episode of hyperammonemia and may present as a transient neurologic
PFS
symptoms compatible with the posterior fossa syndrome. © 2014 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.
1.
Introduction
The posterior fossa syndrome (PFS) is a well-known clinical entity and mainly occurs in children. This syndrome was first described in 1972 by Stein et al.1 Core symptoms of PFS are transient cerebellar mutism, ataxia and neurocognitive changes.2e4 In varying combinations and severity they may be accompanied by symptoms such as emotional lability, poor oral
intake, decreased spontaneous movements, impaired eye opening and urinary retention. Up to 93% of cases are described in the acute phase after resection of a large midline cerebellar tumour. Possible other causes include infection, inflammation, trauma and ischaemia.2,3,5,6 SPECT scan findings in these children demonstrate, bilateral hypoperfusion of dentate nuclei and frontal cortex suggesting dysfunction of the dentate-thalamocortical pathway.2,3 Because of its transient nature diaschisis is thought to play a role as causative mechanism of PFS.
* Corresponding author. Tel.: þ31 205108911. E-mail address: [email protected] (S.C.M. Nedermeijer). http://dx.doi.org/10.1016/j.ejpn.2014.12.001 1090-3798/© 2014 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.
Please cite this article in press as: Nedermeijer SCM, et al., Posterior fossa syndrome in a patient with an ornithine transcarbamylase deficiency, European Journal of Paediatric Neurology (2014), http://dx.doi.org/10.1016/j.ejpn.2014.12.001
2
e u r o p e a n j o u r n a l o f p a e d i a t r i c n e u r o l o g y x x x ( 2 0 1 4 ) 1 e3
Table 1 e Serum and spinal fluid test results during the episode of hyperammonaemia before onset of PFS symptoms, at onset of PFS and two weeks later during recovery.
Ammonia (mmol/L) Glutamine (mmol/L) Glutaminic acid (mmol/L) Citrulline (mmol/L) Ornithine (mmol/L) Methionine (mmol/L)
Serum
Spinal fluid
Normal range 2 months Before 1 week Before At onset of PFS 2 weeks After serum onset of PFS onset PFS PFS onset
At onset of PFS
24e48 400e720 14e78 17e50 27e103 5e43
127 791 45 40 44 37
Ornithine transcarbamylase deficiency (OTC) is the most common urea cycle disorder, which occurs in an estimated 1 per 50.000 live births.7 Because it is a X-linked disease, girls have milder symptoms whereas boys are often severely affected. Symptoms are mostly due to hyperammonaemia and include nausea, vomiting, lethargy and even convulsions and coma.8 Common neurological symptoms at presentation of a hyperammonaemia are a decreased level of consciousness, abnormal motor function or seizures.9 We describe a girl with late onset OTC deficiency presenting with transient mutism and subsequent dysarthria, ataxia and behavioural changes compatible with PFS. To this day this condition has not been described in the literature in a metabolic disorder or more specifically OTC. We therefore would like to point out that this is a exceptional report of a not yet described neurologic syndrome in OTC.
2.
Case report
A 13-year old girl known with frequent episodes of hyperammonaemia caused by late onset OTC deficiency was admitted to our paediatric neurology department with mutism, ataxia and focal myoclonic jerks. In previous years, she had been admitted with hyperammonaemic crises multiple times during viral infections and after her menstruation. During these episodes she suffered from nausea and vomiting but did not have any neurologic symptoms. In the week preceding her presentation, she had been treated by the metabolic paediatricians because of another hyperammonaemic episode with ammonia serum levels up to 308 umol/L and high levels glutamine (Table 1). She was successfully treated with sodium benzoate, sodium phenylacetate and citrulline. One day after dismissal, parents noted a decreased consciousness and loss of strength of her left arm. At admission on that same day, blood tests showed no hyperammonaemia (serum ammonia of 47 umol/L) and a normal serum level of glutamine (Table 1). Examination of the cerebrospinal fluid showed an ammonia level of 7 umol/L, normal glucose and protein levels and no signs of infection. The glutamine level in this cerebral fluid was 498 umol/L, citrulline 4 umol/L and methionine 3 umol/L. Glutamic acid was not detectable (Table 1) Viral and bacterial investigations were normal. At neurologic examination in the emergency room, she was fully alert and cooperative but could not speak. Movements of mouth and tongue on command were impaired, but she was able to swallow and eat. In addition, she suffered from focal
308 2199 75 21 60 41
47 509 66 67 79 28
13 249 21 45 40 7
7 498 (n: 334e658 mmol/L) 0 (n: 0e8 mmol/L) 4 (n: 1e3 mmol/L) 7 (n: 2e6 mmol/L) 3 (n: 1e4 mmol/L)
contractions of her left arm and the left corner of mouth. She had a severe axial and bilateral limb ataxia. MRI scan of the brain showed no ischaemia or haemorrhage or other pathology. A second MRI was made twelve days after onset of the symptoms because focal left sided jerks persisted, but again no ischaemic alterations or other abnormalities were present, i.e. MR spectroscopy showed no elevated lactate or NAA and DTI did not show abnormalities compatible with ischaemia, infection or damage otherwise of the brain. Because of the focal contractions, she was treated with midazolam and phenytoin. Multiple EEGs were performed. They showed diffuse bilateral slowing of cerebral activity and sporadic sharp waves but no clear correlation between the contractions during observation. Thus we concluded that the rhythmic jerks were not epileptic seizures but myoclonic activity. Because there was no evidence in blood parameters that dysregulation of OTC was responsible for her neurologic condition, other causes that could explain clinical presentation were investigated and a DNA polymerase gamma (POLG) mutation was excluded. Mutism lasted for four days and during this phase she did not show severe behavioural disturbances. She was cooperative and communicative. She was able to eat and swallow without problems, but was unable to perform complex movements of mouth or tongue on request until speech onset. At speech onset, speech was characteristically limited during the first days to single words, which were spoken in a strained-strangled voice. The pronunciation of consonants was imprecise and she showed forced in and expiration during speech. Within a week she was able to speak short sentences in a very slow and halting way and with monotonous voice. We concluded that the clinical picture was compatible with the posterior fossa syndrome (PFS) by exclusion of stroke and other metabolic disease which may present with the same symptoms. Ten days after admission, she started vomiting and the cerebellar ataxia and dysarthria deteriorated but mutism did not recur. At that moment serum levels of ammonia were raised up to 315 umol/L. This was corrected with sodium benzoate, arginine and glucose 10% intravenous after which symptoms again subsided. Because by exclusion of other causes we suspected that the fluctuations of serum ammonia could be due to hormonal imbalance, oral anticonception was successfully started to prevent these hormonal fluctuations. Twenty days after speech onset, speech was slow but nu other dysarthric features were present. Neuropsychological testing revealed no language or memory deficits or agnosia or
Please cite this article in press as: Nedermeijer SCM, et al., Posterior fossa syndrome in a patient with an ornithine transcarbamylase deficiency, European Journal of Paediatric Neurology (2014), http://dx.doi.org/10.1016/j.ejpn.2014.12.001
e u r o p e a n j o u r n a l o f p a e d i a t r i c n e u r o l o g y x x x ( 2 0 1 4 ) 1 e3
attention deficit. but there was oro-apraxia and ataxia of the left hand. After six weeks, ataxia had subsided and only slight slowness of speech remained.
Conflict of interest
3.
references
Discussion
One of the characteristics of PFS in children after cerebellar tumour surgery is its delayed onset after a relatively short postoperative interval of normal speech. Similarly, in our patient a delayed onset of PFS occurred after a period of OTC dysregulation. Most frequently, neurological symptoms in patients with dysregulation of OTC are seizures or a decreased level of consciousness and/or ataxia. These symptoms usually occur at presentation with hyperammonaemia and tend to be present especially after multiple episodes of hyperammonaemia.9,11,12 In patients with OTC, metabolic stroke is described of which prognosis in terms of neurological recovery is in general poor. Children with OTC developed persistent late sequelae with loss of strength o and mild coordination problems after metabolic stroke. However, in these patients ischaemic changes were found on MRI.13,14 In one patient with dysarthria, ataxia and slurred speech (but no mutism), there was evidence of bilateral swelling of the putamen and head of the caudate nucleus.14 In our patient at onset of neurologic symptoms, serum ammonia level was normal and no abnormalities compatible with ischaemic stroke could be discovered on repeated MRI's. Also, recovery was relatively fast and complete except for some persistency slowing of speech. Interestingly and very much compatible with PFS after cerebellar tumour surgery in our patient, there was a delay of a week between onset of the neurological symptoms and the previous episode of hyperammonaemia as well as an almost complete remission of PFS symptoms after one month. We conclude that in our patient, symptoms such as mutism and subsequent dysarthria accompanied by ataxia are compatible with PFS syndrome. The delayed onset and transient nature of the symptoms as well as the normal MRI findings agree with this diagnosis which as yet has never been described in patients with OTC. Excluding other causes like metabolic stroke or POLG mutation, we consider this case as a PFS that developed shortly after hyperammonaemic episode. This is relevant, because of the more favourable outcome of PFS then of metabolic stroke in OTC. In conclusion, we would like to emphasise that this syndrome has never before been described in patients with OTC.
3
None.
1. Stein BM, Fraser RA, Tenner MS. Normal pressure hydrocephalus: complication of posterior fossa surgery in children. Pediatrics 1972 Jan;49(1):50e8. 2. Baillieux H, De Smet HJ, Paquier PF, De Deyn PP, Marien P. Cerebellar neurocognition: insights into the bottom of the brain. Clin Neurol Neurosurg 2008 Sep;110(8):763e73. 3. Gudrunardottir T, Sehested A, Juhler M, Schmiegelow K. Cerebellar mutism: review of the literature. Childs Nerv Syst 2011 Mar;27(3):355e63. 4. De Smet HJ, Catsman-Berrevoets C, Aarsen F, Verhoeven J, Marien P, Paquier PF. Auditory-perceptual speech analysis in children with cerebellar tumours: a long-term follow-up study. Eur J Paediatr Neurol 2012 Sep;16(5):434e42. 5. De Smet HJ, Baillieux H, Catsman-Berrevoets C, De Deyn PP, Marien P, Paquier PF. Postoperative motor speech production in children with the syndrome of 'cerebellar' mutism and subsequent dysarthria: a critical review of the literature. Eur J Paediatr Neurol 2007 Jul;11(4):193e207. 6. Dimova PS, Bojinova VS, Milanov IG. Transient mutism and pathologic laughter in the course of cerebellitis. Pediatr Neurol 2009 Jul;41(1):49e52. 7. Uchino T, Endo F, Matsuda I. Neurodevelopmental outcome of long-term therapy of urea cycle disorders in Japan. J Inherit Metab Dis 1998;21(Suppl. 1):151e9. 8. Gordon N. Ornithine transcarbamylase deficiency: a urea cycle defect. Eur J Paediatr Neurol 2003;7(3):115e21. 9. Summar ML, Dobbelaere D, Brusilow S, Lee B. Diagnosis, symptoms, frequency and mortality of 260 patients with urea cycle disorders from a 21-year, multicentre study of acute hyperammonaemic episodes. Acta Paediatr 2008 Oct;97(10):1420e5. 11. Nicolaides P, Liebsch D, Dale N, Leonard J, Surtees R. Neurological outcome of patients with ornithine carbamoyltransferase deficiency. Arch Dis Child 2002 Jan;86(1):54e6. 12. Bireley WR, Van Hove JL, Gallagher RC, Fenton LZ. Urea cycle disorders: brain MRI and neurological outcome. Pediatr Radiol 2012 Apr;42(4):455e62. 13. Christodoulou J, Qureshi IA, McInnes RR, Clarke JT. Ornithine transcarbamylase deficiency presenting with strokelike episodes. J Pediatr 1993 Mar;122(3):423e5. 14. Keegan CE, Martin DM, Quint DJ, Gorski JL. Acute extrapyramidal syndrome in mild ornithine transcarbamylase deficiency: metabolic stroke involving the caudate and putamen without metabolic decompensation. Eur J Pediatr 2003 Apr;162(4):259e63.
Please cite this article in press as: Nedermeijer SCM, et al., Posterior fossa syndrome in a patient with an ornithine transcarbamylase deficiency, European Journal of Paediatric Neurology (2014), http://dx.doi.org/10.1016/j.ejpn.2014.12.001
Official Journal of the European Paediatric Neurology Society
Case study
Posterior fossa syndrome in a patient with an ornithine transcarbamylase deficiency S.C.M. Nedermeijer a,*, J. van den Hout b, C. Geleijns b, H. de Klerk c, C.E. Catsman-Berrevoets b a
Department of Neurology, Sint Lucas Andreas Hospital, Amsterdam, Netherlands Department of Paediatric Neurology, Erasmus MC, Erasmus Universi-ty Hospital Rotterdam and Sophia Children's Hospital, Rotterdam, Netherlands c Centre for Lysosomal and Metabolic Diseases, Departments of Internal Med-icine and Pediatrics, Erasmus MC, Rotterdam, Netherlands b
article info
abstract
Article history:
The posterior fossa syndrome (PFS) is a well-known clinical entity and mainly occurs in
Received 2 October 2013
children. Ornithine transcarbamylase deficiency (OTC) is the most common urea cycle
Received in revised form
disorder, which occurs in an estimated 1 per 50.000 live births in Japan. Symptoms are
1 December 2014
mostly due to hyperammonemia and include nausea, vomiting, lethargia and even con-
Accepted 9 December 2014
vulsions and coma. Common neurological symptoms at presentation of a hyperammonemia are a decreased level of consciousness, abnormal motor function or seizures.
Keywords:
In this case we describe a girl with late onset OCT deficiency presenting with transient
OTC
mutism and subsequent dysarthria, ataxia and behavioural changes. This is an exceptional
Ornithine transcarbamylase defi-
report of a not yet described neurologic syndrome in OTC. Synopsis: Neurologic symptoms in ornithine transcarbamylase deficiency do not only
ciency Posterior fossa syndrome
occur during an episode of hyperammonemia and may present as a transient neurologic
PFS
symptoms compatible with the posterior fossa syndrome. © 2014 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.
1.
Introduction
The posterior fossa syndrome (PFS) is a well-known clinical entity and mainly occurs in children. This syndrome was first described in 1972 by Stein et al.1 Core symptoms of PFS are transient cerebellar mutism, ataxia and neurocognitive changes.2e4 In varying combinations and severity they may be accompanied by symptoms such as emotional lability, poor oral
intake, decreased spontaneous movements, impaired eye opening and urinary retention. Up to 93% of cases are described in the acute phase after resection of a large midline cerebellar tumour. Possible other causes include infection, inflammation, trauma and ischaemia.2,3,5,6 SPECT scan findings in these children demonstrate, bilateral hypoperfusion of dentate nuclei and frontal cortex suggesting dysfunction of the dentate-thalamocortical pathway.2,3 Because of its transient nature diaschisis is thought to play a role as causative mechanism of PFS.
* Corresponding author. Tel.: þ31 205108911. E-mail address: [email protected] (S.C.M. Nedermeijer). http://dx.doi.org/10.1016/j.ejpn.2014.12.001 1090-3798/© 2014 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.
Please cite this article in press as: Nedermeijer SCM, et al., Posterior fossa syndrome in a patient with an ornithine transcarbamylase deficiency, European Journal of Paediatric Neurology (2014), http://dx.doi.org/10.1016/j.ejpn.2014.12.001
2
e u r o p e a n j o u r n a l o f p a e d i a t r i c n e u r o l o g y x x x ( 2 0 1 4 ) 1 e3
Table 1 e Serum and spinal fluid test results during the episode of hyperammonaemia before onset of PFS symptoms, at onset of PFS and two weeks later during recovery.
Ammonia (mmol/L) Glutamine (mmol/L) Glutaminic acid (mmol/L) Citrulline (mmol/L) Ornithine (mmol/L) Methionine (mmol/L)
Serum
Spinal fluid
Normal range 2 months Before 1 week Before At onset of PFS 2 weeks After serum onset of PFS onset PFS PFS onset
At onset of PFS
24e48 400e720 14e78 17e50 27e103 5e43
127 791 45 40 44 37
Ornithine transcarbamylase deficiency (OTC) is the most common urea cycle disorder, which occurs in an estimated 1 per 50.000 live births.7 Because it is a X-linked disease, girls have milder symptoms whereas boys are often severely affected. Symptoms are mostly due to hyperammonaemia and include nausea, vomiting, lethargy and even convulsions and coma.8 Common neurological symptoms at presentation of a hyperammonaemia are a decreased level of consciousness, abnormal motor function or seizures.9 We describe a girl with late onset OTC deficiency presenting with transient mutism and subsequent dysarthria, ataxia and behavioural changes compatible with PFS. To this day this condition has not been described in the literature in a metabolic disorder or more specifically OTC. We therefore would like to point out that this is a exceptional report of a not yet described neurologic syndrome in OTC.
2.
Case report
A 13-year old girl known with frequent episodes of hyperammonaemia caused by late onset OTC deficiency was admitted to our paediatric neurology department with mutism, ataxia and focal myoclonic jerks. In previous years, she had been admitted with hyperammonaemic crises multiple times during viral infections and after her menstruation. During these episodes she suffered from nausea and vomiting but did not have any neurologic symptoms. In the week preceding her presentation, she had been treated by the metabolic paediatricians because of another hyperammonaemic episode with ammonia serum levels up to 308 umol/L and high levels glutamine (Table 1). She was successfully treated with sodium benzoate, sodium phenylacetate and citrulline. One day after dismissal, parents noted a decreased consciousness and loss of strength of her left arm. At admission on that same day, blood tests showed no hyperammonaemia (serum ammonia of 47 umol/L) and a normal serum level of glutamine (Table 1). Examination of the cerebrospinal fluid showed an ammonia level of 7 umol/L, normal glucose and protein levels and no signs of infection. The glutamine level in this cerebral fluid was 498 umol/L, citrulline 4 umol/L and methionine 3 umol/L. Glutamic acid was not detectable (Table 1) Viral and bacterial investigations were normal. At neurologic examination in the emergency room, she was fully alert and cooperative but could not speak. Movements of mouth and tongue on command were impaired, but she was able to swallow and eat. In addition, she suffered from focal
308 2199 75 21 60 41
47 509 66 67 79 28
13 249 21 45 40 7
7 498 (n: 334e658 mmol/L) 0 (n: 0e8 mmol/L) 4 (n: 1e3 mmol/L) 7 (n: 2e6 mmol/L) 3 (n: 1e4 mmol/L)
contractions of her left arm and the left corner of mouth. She had a severe axial and bilateral limb ataxia. MRI scan of the brain showed no ischaemia or haemorrhage or other pathology. A second MRI was made twelve days after onset of the symptoms because focal left sided jerks persisted, but again no ischaemic alterations or other abnormalities were present, i.e. MR spectroscopy showed no elevated lactate or NAA and DTI did not show abnormalities compatible with ischaemia, infection or damage otherwise of the brain. Because of the focal contractions, she was treated with midazolam and phenytoin. Multiple EEGs were performed. They showed diffuse bilateral slowing of cerebral activity and sporadic sharp waves but no clear correlation between the contractions during observation. Thus we concluded that the rhythmic jerks were not epileptic seizures but myoclonic activity. Because there was no evidence in blood parameters that dysregulation of OTC was responsible for her neurologic condition, other causes that could explain clinical presentation were investigated and a DNA polymerase gamma (POLG) mutation was excluded. Mutism lasted for four days and during this phase she did not show severe behavioural disturbances. She was cooperative and communicative. She was able to eat and swallow without problems, but was unable to perform complex movements of mouth or tongue on request until speech onset. At speech onset, speech was characteristically limited during the first days to single words, which were spoken in a strained-strangled voice. The pronunciation of consonants was imprecise and she showed forced in and expiration during speech. Within a week she was able to speak short sentences in a very slow and halting way and with monotonous voice. We concluded that the clinical picture was compatible with the posterior fossa syndrome (PFS) by exclusion of stroke and other metabolic disease which may present with the same symptoms. Ten days after admission, she started vomiting and the cerebellar ataxia and dysarthria deteriorated but mutism did not recur. At that moment serum levels of ammonia were raised up to 315 umol/L. This was corrected with sodium benzoate, arginine and glucose 10% intravenous after which symptoms again subsided. Because by exclusion of other causes we suspected that the fluctuations of serum ammonia could be due to hormonal imbalance, oral anticonception was successfully started to prevent these hormonal fluctuations. Twenty days after speech onset, speech was slow but nu other dysarthric features were present. Neuropsychological testing revealed no language or memory deficits or agnosia or
Please cite this article in press as: Nedermeijer SCM, et al., Posterior fossa syndrome in a patient with an ornithine transcarbamylase deficiency, European Journal of Paediatric Neurology (2014), http://dx.doi.org/10.1016/j.ejpn.2014.12.001
e u r o p e a n j o u r n a l o f p a e d i a t r i c n e u r o l o g y x x x ( 2 0 1 4 ) 1 e3
attention deficit. but there was oro-apraxia and ataxia of the left hand. After six weeks, ataxia had subsided and only slight slowness of speech remained.
Conflict of interest
3.
references
Discussion
One of the characteristics of PFS in children after cerebellar tumour surgery is its delayed onset after a relatively short postoperative interval of normal speech. Similarly, in our patient a delayed onset of PFS occurred after a period of OTC dysregulation. Most frequently, neurological symptoms in patients with dysregulation of OTC are seizures or a decreased level of consciousness and/or ataxia. These symptoms usually occur at presentation with hyperammonaemia and tend to be present especially after multiple episodes of hyperammonaemia.9,11,12 In patients with OTC, metabolic stroke is described of which prognosis in terms of neurological recovery is in general poor. Children with OTC developed persistent late sequelae with loss of strength o and mild coordination problems after metabolic stroke. However, in these patients ischaemic changes were found on MRI.13,14 In one patient with dysarthria, ataxia and slurred speech (but no mutism), there was evidence of bilateral swelling of the putamen and head of the caudate nucleus.14 In our patient at onset of neurologic symptoms, serum ammonia level was normal and no abnormalities compatible with ischaemic stroke could be discovered on repeated MRI's. Also, recovery was relatively fast and complete except for some persistency slowing of speech. Interestingly and very much compatible with PFS after cerebellar tumour surgery in our patient, there was a delay of a week between onset of the neurological symptoms and the previous episode of hyperammonaemia as well as an almost complete remission of PFS symptoms after one month. We conclude that in our patient, symptoms such as mutism and subsequent dysarthria accompanied by ataxia are compatible with PFS syndrome. The delayed onset and transient nature of the symptoms as well as the normal MRI findings agree with this diagnosis which as yet has never been described in patients with OTC. Excluding other causes like metabolic stroke or POLG mutation, we consider this case as a PFS that developed shortly after hyperammonaemic episode. This is relevant, because of the more favourable outcome of PFS then of metabolic stroke in OTC. In conclusion, we would like to emphasise that this syndrome has never before been described in patients with OTC.
3
None.
1. Stein BM, Fraser RA, Tenner MS. Normal pressure hydrocephalus: complication of posterior fossa surgery in children. Pediatrics 1972 Jan;49(1):50e8. 2. Baillieux H, De Smet HJ, Paquier PF, De Deyn PP, Marien P. Cerebellar neurocognition: insights into the bottom of the brain. Clin Neurol Neurosurg 2008 Sep;110(8):763e73. 3. Gudrunardottir T, Sehested A, Juhler M, Schmiegelow K. Cerebellar mutism: review of the literature. Childs Nerv Syst 2011 Mar;27(3):355e63. 4. De Smet HJ, Catsman-Berrevoets C, Aarsen F, Verhoeven J, Marien P, Paquier PF. Auditory-perceptual speech analysis in children with cerebellar tumours: a long-term follow-up study. Eur J Paediatr Neurol 2012 Sep;16(5):434e42. 5. De Smet HJ, Baillieux H, Catsman-Berrevoets C, De Deyn PP, Marien P, Paquier PF. Postoperative motor speech production in children with the syndrome of 'cerebellar' mutism and subsequent dysarthria: a critical review of the literature. Eur J Paediatr Neurol 2007 Jul;11(4):193e207. 6. Dimova PS, Bojinova VS, Milanov IG. Transient mutism and pathologic laughter in the course of cerebellitis. Pediatr Neurol 2009 Jul;41(1):49e52. 7. Uchino T, Endo F, Matsuda I. Neurodevelopmental outcome of long-term therapy of urea cycle disorders in Japan. J Inherit Metab Dis 1998;21(Suppl. 1):151e9. 8. Gordon N. Ornithine transcarbamylase deficiency: a urea cycle defect. Eur J Paediatr Neurol 2003;7(3):115e21. 9. Summar ML, Dobbelaere D, Brusilow S, Lee B. Diagnosis, symptoms, frequency and mortality of 260 patients with urea cycle disorders from a 21-year, multicentre study of acute hyperammonaemic episodes. Acta Paediatr 2008 Oct;97(10):1420e5. 11. Nicolaides P, Liebsch D, Dale N, Leonard J, Surtees R. Neurological outcome of patients with ornithine carbamoyltransferase deficiency. Arch Dis Child 2002 Jan;86(1):54e6. 12. Bireley WR, Van Hove JL, Gallagher RC, Fenton LZ. Urea cycle disorders: brain MRI and neurological outcome. Pediatr Radiol 2012 Apr;42(4):455e62. 13. Christodoulou J, Qureshi IA, McInnes RR, Clarke JT. Ornithine transcarbamylase deficiency presenting with strokelike episodes. J Pediatr 1993 Mar;122(3):423e5. 14. Keegan CE, Martin DM, Quint DJ, Gorski JL. Acute extrapyramidal syndrome in mild ornithine transcarbamylase deficiency: metabolic stroke involving the caudate and putamen without metabolic decompensation. Eur J Pediatr 2003 Apr;162(4):259e63.
Please cite this article in press as: Nedermeijer SCM, et al., Posterior fossa syndrome in a patient with an ornithine transcarbamylase deficiency, European Journal of Paediatric Neurology (2014), http://dx.doi.org/10.1016/j.ejpn.2014.12.001
