Results 161 to 170 of about 9,985 (202)

A case report of congenital hypomyelination

European Journal of Pediatrics, 1982
A 3 year, 11 month-old Japanese male with congenital hypomyelination is described. Clinical features are delay of motor development, generalized muscle hypotonia and weakness, absent tendon reflexes due to peripheral neuropathy, and normal mental development. Electrophysiologically, nerve conduction velocities could not be measured.
J, Ono, E, Senba, S, Okada, J, Abe, Y, Futagi, H, Shimizu, T, Sugita, S, Hashimoto, H, Yabuuchi   +8 more
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Leukoencephalopathy with ataxia, hypodontia, and hypomyelination

Neurology, 2005
The authors describe four unrelated girls with a distinctive neurologic disorder with early-onset progressive ataxia and hypodontia with a characteristic pattern of delayed dentition. Cerebral MRI shows hypomyelinated white matter and cerebellar atrophy; 1H-MRS of white matter reveals a marked elevation of myo-inositol.
Wolf, N. I., Harting, I., Boltshauser, E., Wiegand, G., Koch, M. J., Schmitt-Mechelke, T., Martin, E., Zschocke, J., Uhlenberg, B., Hoffmann, G. F., Weber, L., Ebinger, F., Rating, D.   +12 more
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Pendular nystagmus in hypomyelinating leukodystrophy

Journal of Clinical Neuroscience, 2013
We report the case of a 49-year old woman affected by hypomyelinating leukodystrophy. She presented with typical pendular nystagmus that was analyzed with video-oculography which is provided in the supplementary material of the report. The pendular nystagmus was accompanied by upper limb ataxia on the index-to-nose test.
R, Bassani, D, Pareyson, L, D'Incerti, D, Di Bella, F, Taroni, E, Salsano   +5 more
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Hypomyelination in three Weimaraner dogs

Journal of Small Animal Practice, 2010
Hypomyelination syndrome of the Weimaraner dog is a disease characterised by a reduction or absence of myelin in the axons of the central nervous system (CNS) exclusively. The objective of this study was to analyse the cause of this deficiency of myelin.
Y, Millán, J, Mascort, A, Blanco, C, Costa, D, Masian, S, Guil-Luna, M, Pumarola, J, Martin de Las Mulas   +7 more
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Congenital Hypomyelination Neuropathy in a Newborn

Neuropediatrics, 1983
A case of infantile neuropathy with signs of respiratory distress and impaired abdominal movements from the neonatal period was reported. Muscle biopsy revealed type II fiber predominance and atrophy, and the sural nerve biopsy demonstrated the absence of myelin in almost all of the axons. Onion bulb formation or myelin debris was not observed.
S, Hakamada, T, Kumagai, K, Hara, S, Miyazaki, K, Miyazaki, K, Watanabe   +5 more
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Hypomyelination in border terriers

Veterinary Record, 2016
I AM seeking from colleagues cases of hypomyelination in border terriers, also known as ‘shaking puppy syndrome’, for the purposes of genetic research. Traditionally, the diagnosis is made at postmortem examination, although the clinical signs are …
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Solving the hypomyelination conundrum - Imaging perspectives

European Journal of Paediatric Neurology, 2020
Hypomyelinating Leukodystrophies (HLDs) are a genetically heterogeneous, clinically overlapping group of disorders with the unifying MR imaging appearance of myelin deficit in the brain. In fact, it is the MRI phenotype that typically raises the diagnostic suspicion in this single largest group of undiagnosed leukodystrophies and guides gene testing ...
Prateek, Malik, Karthik, Muthusamy, Kshitij, Mankad, Manohar, Shroff, Sniya, Sudhakar   +4 more
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Spinocerebellar degeneration and cerebral hypomyelination in a family

American Journal of Medical Genetics, 1995
AbstractThe proband is a 24‐year‐old woman who developed symptoms of a spinocerebellar degeneration in early childhood. Neurological examination revealed normal cognitive function, optic atrophy, dysarthria, titubation, action tremors, increased deep tendon reflexes, Babinski's signs, and a spastic scissoring gait.
S, Chatkupt, L J, Wolansky, A, Jotkowitz, L Y, Shih, S D, Cook   +4 more
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Congenital hypomyelinating neuropathy: A reversible case

Pediatric Neurology, 1997
A boy was born at 39 weeks gestation with severe weakness and hypotonia, fractured femurs, poor suck and swallow, and absent deep tendon reflexes. Electrodiagnostic studies revealed marked slowing of motor nerve conduction velocities and normal muscle electrical activity with no evidence of acute denervation.
M, Ghamdi, D L, Armstrong, G, Miller
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Cockayne syndrome: MRI correlates of hypomyelination

Pediatric Neurology, 1988
Two siblings with Cockayne syndrome are reported who had most of the stigmata characteristic of the syndrome as it was initially described in 1936. Unusual findings are emphasized, such as the early onset of cataracts and the early detection of peripheral neuropathy.
O, Dabbagh, K F, Swaiman
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