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270 Infantile neuroaxonal dystrophy: Report of two cases
All3
Abstracts
Granchelli [Buffalo, USA] has set up an experimental ‘bioassay’ of potential therapeutic agents in mdx mice, which are not overtly weak clinically, by assessing the protective effect in reducing the 20% decrement in whole body muscle force in these mice following treadmill exercise at 4-6 weeks of age. This has shown a beneficial effect of low-dose steroids and may also identify other products worth testing further in dystrophic animals or humans.
078 Mental deficiency: an isolated or prevalent clinical manifestation of congenital myotonic dystrophy B ECHENNE, V HUMBERTCLAUDE, H DAUDET, M SEMPRINO, A ROUBERTIE, R CHEMINAL, F RIVIER Service de Neurope’diatrie, France
Hcipital
unrecognized until the patient is exposed to a neuromuscular blocking agent. Some CMS are treatable, but effective therapy requires a precise diagnosis. Two siblings were evaluated in our department because of bilateral ptosis in 1998 which had been noticed by their parents in the first month of life in each child. Developmental milestones of the children were within normal limits. Their parents were consanguineous. Neurological examination revealed bilateral ptosis and partial external ophthalmoplegia. EMG revealed myasthenic response. These two patients were diagnosed as having CMS because of disease history and clinical and laboratory findings. CMS may be seen in the infantile period as in our patients. Ptosis which begins in the infantile period with a positive family history is strongly suggestive of CMS, so we must keep this in mind in differential diagnosis in daily paediatric practice.
Saint Eloi, Montpellier,
The clinical picture of congenital myotonic dystrophy (CMD) is characterized by neonatal hypotonia, generalized muscle weakness with respiratory and feeding difficulties, facial weakness, and arthrogryposis. In some cases however, the manifestations are less severe and delayed milestones and then mental deficiency are the prevalent or sole abnormalities observed during several years. We collected eight patients from six families, who had experienced either uneventful (3/8) or slightly disturbed neonatal period: hypotonia (3/8), transient respiratory distress (4/8), feeding difficulties (4/S), talipes equinovarus (2/8), club hand (l/8). No facial weakness was seen. All these patients had then delayed milestones (independent walking between 16 and 36 months), moderate hypotonia, speech and language delay with/ then learning difficulties. There was a constant mental deficiency: verbal IQ between 45 and 70 (mean 57.2), non-verbal IQ between 45 and 69 (mean 56.5) [Wechsler’s scale]. Clinical signs of classical myotonic dystrophy (MD) began to appear after the age of 5 years. They became obvious when patients were over 10 years of age. MD was transmitted by an affected mother in all patients, who had 400-3300 expanded CTG repeats. Some authors consider these aspects of MD as ‘childhood type’ of MD. Because of the early onset in most cases, it seems appropriate to consider this clinical picture as delayed or moderate type of CMD.
269
Congenital myasthenic syndromes F ERDOCAN,’ E DENIZ,’ Z YAPICI,’ M BARLAS,’ M ERTAS,~ H OZCAN,~ M ERAKsOY~ ’Erciyes University Medical Faculty of Neurology Department; 2/stanbul University Medical Faculty Neurology Department, Istanbul, Turkey
of
The congenital myasthenic syndromes (CMS) are uncommon but challenging disorders. Some are severe and lifethreatening from birth; some are so mild that they go
270 Infantile neuroaxonal cases
dystrophy:
Report of two
F ERDOCAN,’ Z YAPICI,’ E DENIZ,’ M BARLAS,’ Y PARMAN,~ M ERTAS,~ H OZCAN,~ M ERAKSOY~ ’Erciyes University Medical Faculty of Neurology Department; 21stanbul University Medical Faculty Neurology Department, Istanbul, Turkey
of
Infantile neuroaxonal dystrophy (INAD) is a neurodegenerative disease with inherited autosomal recessive pattern. There is a characteristic clinical course starting between 6 months and 2 years of age, with slowing, and later loss, of motor and mental milestones, early visual involvement, symmetrical pyramidal tract signs but marked hypotonia, and often evidence of peripheral motor involvement of anterior horn cell type. In typical cases of INAD, spheroid bodies are widely distributed throughout the central nervous system but are found also in peripheral nerves, especially in nerve endings in intramuscular nerves and in skin and conjunctiva. We present two patients with INAD one of them 2 years old and the other 3 years old. They are related to each other. The disease presented after an upper respiratory tract infection of 1 year’s duration in two girls. They lost their developmental milestones progressively. In their neurological examination, there was marked hypotonia and frog-like posture, bilateral pale optic disc, bilateral Babinski sign, convergent strabismus, tetraparesis. There are anterior horn cell involvement signs on the EMG and marked cerebellar atrophy on the cranial MRI. Sural nerve biopsy was performed and histopathologic examination revealed only thin axons. This report reveals clinical and laboratory findings of two consanguineous Turkish children with INAD and details the electrophysiological and MRI findings of this entity.
Abstracts
Granchelli [Buffalo, USA] has set up an experimental ‘bioassay’ of potential therapeutic agents in mdx mice, which are not overtly weak clinically, by assessing the protective effect in reducing the 20% decrement in whole body muscle force in these mice following treadmill exercise at 4-6 weeks of age. This has shown a beneficial effect of low-dose steroids and may also identify other products worth testing further in dystrophic animals or humans.
078 Mental deficiency: an isolated or prevalent clinical manifestation of congenital myotonic dystrophy B ECHENNE, V HUMBERTCLAUDE, H DAUDET, M SEMPRINO, A ROUBERTIE, R CHEMINAL, F RIVIER Service de Neurope’diatrie, France
Hcipital
unrecognized until the patient is exposed to a neuromuscular blocking agent. Some CMS are treatable, but effective therapy requires a precise diagnosis. Two siblings were evaluated in our department because of bilateral ptosis in 1998 which had been noticed by their parents in the first month of life in each child. Developmental milestones of the children were within normal limits. Their parents were consanguineous. Neurological examination revealed bilateral ptosis and partial external ophthalmoplegia. EMG revealed myasthenic response. These two patients were diagnosed as having CMS because of disease history and clinical and laboratory findings. CMS may be seen in the infantile period as in our patients. Ptosis which begins in the infantile period with a positive family history is strongly suggestive of CMS, so we must keep this in mind in differential diagnosis in daily paediatric practice.
Saint Eloi, Montpellier,
The clinical picture of congenital myotonic dystrophy (CMD) is characterized by neonatal hypotonia, generalized muscle weakness with respiratory and feeding difficulties, facial weakness, and arthrogryposis. In some cases however, the manifestations are less severe and delayed milestones and then mental deficiency are the prevalent or sole abnormalities observed during several years. We collected eight patients from six families, who had experienced either uneventful (3/8) or slightly disturbed neonatal period: hypotonia (3/8), transient respiratory distress (4/8), feeding difficulties (4/S), talipes equinovarus (2/8), club hand (l/8). No facial weakness was seen. All these patients had then delayed milestones (independent walking between 16 and 36 months), moderate hypotonia, speech and language delay with/ then learning difficulties. There was a constant mental deficiency: verbal IQ between 45 and 70 (mean 57.2), non-verbal IQ between 45 and 69 (mean 56.5) [Wechsler’s scale]. Clinical signs of classical myotonic dystrophy (MD) began to appear after the age of 5 years. They became obvious when patients were over 10 years of age. MD was transmitted by an affected mother in all patients, who had 400-3300 expanded CTG repeats. Some authors consider these aspects of MD as ‘childhood type’ of MD. Because of the early onset in most cases, it seems appropriate to consider this clinical picture as delayed or moderate type of CMD.
269
Congenital myasthenic syndromes F ERDOCAN,’ E DENIZ,’ Z YAPICI,’ M BARLAS,’ M ERTAS,~ H OZCAN,~ M ERAKsOY~ ’Erciyes University Medical Faculty of Neurology Department; 2/stanbul University Medical Faculty Neurology Department, Istanbul, Turkey
of
The congenital myasthenic syndromes (CMS) are uncommon but challenging disorders. Some are severe and lifethreatening from birth; some are so mild that they go
270 Infantile neuroaxonal cases
dystrophy:
Report of two
F ERDOCAN,’ Z YAPICI,’ E DENIZ,’ M BARLAS,’ Y PARMAN,~ M ERTAS,~ H OZCAN,~ M ERAKSOY~ ’Erciyes University Medical Faculty of Neurology Department; 21stanbul University Medical Faculty Neurology Department, Istanbul, Turkey
of
Infantile neuroaxonal dystrophy (INAD) is a neurodegenerative disease with inherited autosomal recessive pattern. There is a characteristic clinical course starting between 6 months and 2 years of age, with slowing, and later loss, of motor and mental milestones, early visual involvement, symmetrical pyramidal tract signs but marked hypotonia, and often evidence of peripheral motor involvement of anterior horn cell type. In typical cases of INAD, spheroid bodies are widely distributed throughout the central nervous system but are found also in peripheral nerves, especially in nerve endings in intramuscular nerves and in skin and conjunctiva. We present two patients with INAD one of them 2 years old and the other 3 years old. They are related to each other. The disease presented after an upper respiratory tract infection of 1 year’s duration in two girls. They lost their developmental milestones progressively. In their neurological examination, there was marked hypotonia and frog-like posture, bilateral pale optic disc, bilateral Babinski sign, convergent strabismus, tetraparesis. There are anterior horn cell involvement signs on the EMG and marked cerebellar atrophy on the cranial MRI. Sural nerve biopsy was performed and histopathologic examination revealed only thin axons. This report reveals clinical and laboratory findings of two consanguineous Turkish children with INAD and details the electrophysiological and MRI findings of this entity.