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167 Neurovascular compression causing trigeminal and glossopharyngeal neuralgia in children
All1
Abstracts
Purpose: To report two unrelated infants associated with migration disorders.
with
AMC
Patient 1 was initially considered a ‘classical’ example of AMC, with multiple joint involvement and skin dimples, absence of reflexes and muscular hypotonia. Even at 10 months of age central nervous system involvement was recognized because of infantile spasms. MRI revealed generalized pachygyria. Patient 2 was referred as a neonate with multiple joint contractures and microcephaly. Cranial ultrasound suggested disturbed cerebral architecture. This was confirmed by MRI and CT revealing a complex migrational disturbance with pachygyria and polymicrogyria as well as symmetrical bilateral subcortical calcification in the frontotemporal region. Seizures were not observed in the first 6 months. Case descriptions:
Work-up of AMC should include assessment of central nervous system morphology even in the absence of neonatal seizures. It is not clear why some migrational abnormalities are associated with AMC while many similarly affected patients have normal joint mobility. Conclusion:
167 Neurovascular compression causing trigeminal glossopharyngeal neuralgia in children
and
A-M CHILDS, J F MEANEY, C D FERRIE, P C HOLLAND Departments of Paediatrics at Leeds, Leeds, UK
and MRI, The General
Infirmary
Background: Trigeminal neuralgia (TN) is a frequent cause of paroxysmal facial pain and headache in adults. Glossopharyngeal neuralgia (GPN) is less common but can cause severe episodic pain in the ear and throat. Neurovascular compression of the appropriate cranial nerve as it leaves the brain stem is responsible for the symptoms in many patients, and neurosurgical decompression of the nerve is now a well accepted treatment in adults with both TN and GPN who fail to respond to drug therapy. Neither TN nor GPN are routinely considered in differential diagnosis when assessing children with paroxysmal facial or head pain, as they are not reported to occur in childhood. We present case reports of three children with documented neurovascular compression causing severe neuralgic pain and disability. Case I: A 9-year-old
boy with a lo-month history of severe paroxysmal pain affecting the right side of his forehead. The pain was triggered by minimal stimulation of the affected area, including movement but always disappeared at night. He failed to respond to medical treatment and was referred for neurosurgery. He underwent four separate explorations of his posterior fossa and on each occasion different vessels, predominantly venous, were found to be compressing the right trigeminal nerve. He has remained pain-free for 18 months since the last operation. Case 2: A 12-year-old boy with a 3-month history of severe lightning pains over the left forehead, again triggered by minimal stimulation. MR angiography revealed venous compression of the left Vth nerve as it left the pons. After failing to respond to medical
treatment he underwent microvascular and the pain has now resolved.
decompression
Case 3: A 13-year-old girl with a history of paroxysmal pain in her right ear since infancy. MRA revealed a prominent looping right posterior inferior cerebellar artery, compressing the right IX/Xth nerve complex at its exit from the medulla. Her symptoms are currently well controlled with gabapentin.
Both glossopharyngeal and trigeminal neuralgia occur in children and can cause severe disability. These diagnoses should be considered in children presenting with paroxysmal facial, ear or throat pain so that appropriate mvestigation, including MR angiography, can be done and effective treatment instituted without delay. Children failing to respond to medical treatment should be considered for neurosurgery, if neurovascular compression is identified as the possible cause.
Conclusion:
146 Muscle-eye-brain disease and classical WalkerWarburg syndrome are two distinct disorders: A molecular genetic and clinical study B CORMAND,’ H PIHKO,’ W DOBYNS,3 L VALANNE,4 H TOPALOGLU,’ T VOlT,6 P SANTAVUOR1,2 A-E LEHESJOKI’ ‘Department of Medical Genetics; 2Paediatric Neurology; 4Radiology, University of Helsinki, Finland; 3Department of Genetics, University of Chicago, Chicago, USA; ‘Department of Genetics, Hacettepe University, Ankara, Turkey; 6Department of Paediatrics, University of Essen, Essen, Germany
The clinical presentation of muscle-eye-brain (MEB) disease, originally described in 24 Finnish patients by Santavouri et al. (1978, 1989) is in early infancy and consists of severe mental retardation, muscle weakness (congenital muscular dystrophy) and visual failure. This recessively inherited disease is compatible with survival into adulthood. MRI studies revealed a uniform pattern of brain malformation with a pachygyria/polymicrogyria cortical migration defect, enlarged lateral ventricles and flat brainstem with cerebellar malformation. A linkage study using five Finnish and one Turkish families localized the MEB gene at 1~32. All Finnish patients with the typical MRI findings were compatible with linkage to this locus. The clinical symptoms of Walker-Walburg syndrome (WWS) resemble MEB, but the presentation of the original WWS patients was more severe than MEB. Lissencephaly, occipital cephalocele and structural eye malformations were typical of these patients, who died in infancy. The gene locus of WWS has not been defined. In addition to the classical WWS presentation, patients with a similar clinical presentation, difficult to classify have been described. We studied patients of a nonFinnish origin with a clinical presentation of MEB/WWS spectrum. Several families with a clinical presentation of MEB were compatible with linkage to 1~32. Patients with the typical WWS presentation (lissencephaly, occipital cephalocele) were excluded from this locus. Further studies will be needed to define the boundaries of the clinical presentation of MEB 1~32.
Abstracts
Purpose: To report two unrelated infants associated with migration disorders.
with
AMC
Patient 1 was initially considered a ‘classical’ example of AMC, with multiple joint involvement and skin dimples, absence of reflexes and muscular hypotonia. Even at 10 months of age central nervous system involvement was recognized because of infantile spasms. MRI revealed generalized pachygyria. Patient 2 was referred as a neonate with multiple joint contractures and microcephaly. Cranial ultrasound suggested disturbed cerebral architecture. This was confirmed by MRI and CT revealing a complex migrational disturbance with pachygyria and polymicrogyria as well as symmetrical bilateral subcortical calcification in the frontotemporal region. Seizures were not observed in the first 6 months. Case descriptions:
Work-up of AMC should include assessment of central nervous system morphology even in the absence of neonatal seizures. It is not clear why some migrational abnormalities are associated with AMC while many similarly affected patients have normal joint mobility. Conclusion:
167 Neurovascular compression causing trigeminal glossopharyngeal neuralgia in children
and
A-M CHILDS, J F MEANEY, C D FERRIE, P C HOLLAND Departments of Paediatrics at Leeds, Leeds, UK
and MRI, The General
Infirmary
Background: Trigeminal neuralgia (TN) is a frequent cause of paroxysmal facial pain and headache in adults. Glossopharyngeal neuralgia (GPN) is less common but can cause severe episodic pain in the ear and throat. Neurovascular compression of the appropriate cranial nerve as it leaves the brain stem is responsible for the symptoms in many patients, and neurosurgical decompression of the nerve is now a well accepted treatment in adults with both TN and GPN who fail to respond to drug therapy. Neither TN nor GPN are routinely considered in differential diagnosis when assessing children with paroxysmal facial or head pain, as they are not reported to occur in childhood. We present case reports of three children with documented neurovascular compression causing severe neuralgic pain and disability. Case I: A 9-year-old
boy with a lo-month history of severe paroxysmal pain affecting the right side of his forehead. The pain was triggered by minimal stimulation of the affected area, including movement but always disappeared at night. He failed to respond to medical treatment and was referred for neurosurgery. He underwent four separate explorations of his posterior fossa and on each occasion different vessels, predominantly venous, were found to be compressing the right trigeminal nerve. He has remained pain-free for 18 months since the last operation. Case 2: A 12-year-old boy with a 3-month history of severe lightning pains over the left forehead, again triggered by minimal stimulation. MR angiography revealed venous compression of the left Vth nerve as it left the pons. After failing to respond to medical
treatment he underwent microvascular and the pain has now resolved.
decompression
Case 3: A 13-year-old girl with a history of paroxysmal pain in her right ear since infancy. MRA revealed a prominent looping right posterior inferior cerebellar artery, compressing the right IX/Xth nerve complex at its exit from the medulla. Her symptoms are currently well controlled with gabapentin.
Both glossopharyngeal and trigeminal neuralgia occur in children and can cause severe disability. These diagnoses should be considered in children presenting with paroxysmal facial, ear or throat pain so that appropriate mvestigation, including MR angiography, can be done and effective treatment instituted without delay. Children failing to respond to medical treatment should be considered for neurosurgery, if neurovascular compression is identified as the possible cause.
Conclusion:
146 Muscle-eye-brain disease and classical WalkerWarburg syndrome are two distinct disorders: A molecular genetic and clinical study B CORMAND,’ H PIHKO,’ W DOBYNS,3 L VALANNE,4 H TOPALOGLU,’ T VOlT,6 P SANTAVUOR1,2 A-E LEHESJOKI’ ‘Department of Medical Genetics; 2Paediatric Neurology; 4Radiology, University of Helsinki, Finland; 3Department of Genetics, University of Chicago, Chicago, USA; ‘Department of Genetics, Hacettepe University, Ankara, Turkey; 6Department of Paediatrics, University of Essen, Essen, Germany
The clinical presentation of muscle-eye-brain (MEB) disease, originally described in 24 Finnish patients by Santavouri et al. (1978, 1989) is in early infancy and consists of severe mental retardation, muscle weakness (congenital muscular dystrophy) and visual failure. This recessively inherited disease is compatible with survival into adulthood. MRI studies revealed a uniform pattern of brain malformation with a pachygyria/polymicrogyria cortical migration defect, enlarged lateral ventricles and flat brainstem with cerebellar malformation. A linkage study using five Finnish and one Turkish families localized the MEB gene at 1~32. All Finnish patients with the typical MRI findings were compatible with linkage to this locus. The clinical symptoms of Walker-Walburg syndrome (WWS) resemble MEB, but the presentation of the original WWS patients was more severe than MEB. Lissencephaly, occipital cephalocele and structural eye malformations were typical of these patients, who died in infancy. The gene locus of WWS has not been defined. In addition to the classical WWS presentation, patients with a similar clinical presentation, difficult to classify have been described. We studied patients of a nonFinnish origin with a clinical presentation of MEB/WWS spectrum. Several families with a clinical presentation of MEB were compatible with linkage to 1~32. Patients with the typical WWS presentation (lissencephaly, occipital cephalocele) were excluded from this locus. Further studies will be needed to define the boundaries of the clinical presentation of MEB 1~32.