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Hypomyelinating Leukodystrophy Type 5

Hypomyelination - Congenital Cataract


  • Mental retardation was present in all patients. Peripheral neuropathy was present in the 8 patients who underwent neurophysiological investigations.[ncbi.nlm.nih.gov]
  • The neurologic impairment is progressive and presents as ataxia and spasticity. Affected individuals may lose the ability to walk.[rarediseases.info.nih.gov]
  • The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • Results: All patients presented with congenital cataract. Psychomotor developmental delay was evident after the first year of life. All cases achieved the ability of walking with support only, and they lost this ability with time.[thieme-connect.com]
  • Heterozygotes (carriers) are asymptomatic and are not at risk of developing the disorder.[ncbi.nlm.nih.gov]
Coarse Facial Features
  • Affected individuals have severe developmental delay, coarse facial features, hepatosplenomegaly, and cardiomegaly. Death usually occurs in early childhood. Pathogenic variants in SLC17A5 are causative. Inheritance is autosomal recessive .[ncbi.nlm.nih.gov]
Failure to Thrive
  • Other possible symptoms are reduced tear and saliva production, anhidrosis, and severe failure to thrive, in addition to the classic syndromes of WS4.[clinicalgate.com]
  • Affected individuals have severe developmental delay, coarse facial features, hepatosplenomegaly, and cardiomegaly. Death usually occurs in early childhood. Pathogenic variants in SLC17A5 are causative. Inheritance is autosomal recessive .[ncbi.nlm.nih.gov]
Brittle Hair
  • Trichothiodystrophy (Tay syndrome) (OMIM 601675 ) is characterized by growth retardation, intellectual disability, microcephaly, congenital ichthyosis, and brittle hair [ van der Knaap & Valk 2005 ].[ncbi.nlm.nih.gov]
  • hair, and sometimes microcephaly.[clinicalgate.com]
Cerebellar Sign
  • Neurological examination showed pyramidal and cerebellar signs. Mental retardation ranged from mild to moderate. Peripheral neuropathy was demonstrated by neurophysiological studies in 9/10.[thieme-connect.com]
  • Cerebellar signs (truncal titubation and intention tremor) and peripheral neuropathy (muscle weakness and wasting of the legs) are present in the majority of affected individuals. Seizures can occur. In a few cases cataracts may be absent.[ncbi.nlm.nih.gov]
  • Clinical findings are non-specific but patients often present with developmental delay, cerebellar signs or spasticity. Some disorders have additional clinical findings.[radiopaedia.org]
  • Neurological examination reveals dysarthria, moderate to severe spasticity with elevated muscle tone, brisk reflexes, extensor plantar response, and cerebellar signs such as intention tremor and dysmetria. Nystagmus is rare.[clinicalgate.com]
Focal Seizure
  • Epilepsy with short, complex focal seizures is relatively common. In some patients, there is evidence of peripheral hypomyelination with decreased nerve conduction velocities.[clinicalgate.com]


Multifocal Epileptiform Discharges
  • Older patients had evidence of white matter bulk loss and gliosis. Proton MR spectroscopy showed variable findings, depending on the stage of the disease. Sural nerve biopsy revealed hypomyelinated nerve fibers.[ncbi.nlm.nih.gov]
  • Proton MR spectroscopy reveals low choline, as is usual in hypomyelination, and often also elevation of myo-inositol compatible with gliosis.[clinicalgate.com]


  • This network is dedicated to the acceleration of clinical trials in search of effective treatments for SMA.[books.google.com]
  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • Treatment is focused on relieving symptoms of the condition and may include physical therapy, special education, and medication to treat seizures. [1] Last updated: 11/23/2016[rarediseases.info.nih.gov]
  • Treatment of manifestations: Physical therapy to improve motor function; special education; antiepileptic drugs as needed.[ncbi.nlm.nih.gov]
  • Treatment Treatment Options: The cataracts may be surgically removed. There is no known treatment for the progressive neurologic deterioration but physical therapy and special education may be helpful.[disorders.eyes.arizona.edu]


  • Prognosis - Congenital hypomyelination neuropathy Not supplied. Treatment - Congenital hypomyelination neuropathy Not supplied. Resources - Congenital hypomyelination neuropathy Not supplied.[checkorphan.org]
  • Prognosis The recent recognition of CCFDN as a novel disease entity, and the lack of prospective follow-up does not allow an evidence-based prognosis regarding life expectancy.[ojrd.biomedcentral.com]
  • The prognosis for survival is good. The cerebral white matter may be diffusely hyperintense on T2-weighted imaging, but patches of hyperintensity are frequently present.[plaza.umin.ac.jp]
  • R239, in particular, is associated with earlier onset and poor prognosis. AxD presents with two predominant clinical phenotypes. The infantile form typically presents before the second year of life.[clinicalgate.com]


  • Etiology The progressive neurological degeneration is caused by hypomyelination of the central and peripheral nervous systems.[orpha.net]
  • Etiology They can be etiologically subcategorised into those with and without typical peripheral nervous system involvement (usually based on nerve conduction studies): with typical peripheral nervous system involvement hypomyelination with congenital[radiopaedia.org]
  • Amino-acidopathies and organic acidopathies Defects of myelin proteins Unknown etiology Canavan disease Pelizaeus Merzbacher syndrome Alxander disease Glutaric aciduria 18 q syndrome Van Der Knapp encephalopathy Urea cycle disorders 13.[slideshare.net]
  • Studies have shown that a specific diagnosis remains undetermined in as many as 50% of children with a leukoencephalopathy. 1 However, genetic research has greatly contributed to the understanding of the etiologic background of several white matter disorders[ajnr.org]


  • Summary Epidemiology The syndrome has been described in 10 children from five different families. Clinical description Progressive weakness of the muscles in the lower limbs was also reported.[orpha.net]
  • Reinisch & Pietro De Camilli Nature Cell Biology (2016) Epidemiological, clinical, and genetic landscapes of hypomyelinating leukodystrophies Yurika Numata, Leo Gotoh, Akiko Iwaki, Kenji Kurosawa, Jun-ichi Takanashi, Kimiko Deguchi, Toshiyuki Yamamoto[nature.com]
  • (PMID: 21254220) Jiang Y … Zhang H (Genetic epidemiology 2011) 3 45 60[genecards.org]
  • Niger Language: English (Spanish) Genre: Software Published (Last): 5 April 2014 Pages: 445 PDF File Size: 19.32 Mb ePub File Size: 2.8 Mb ISBN: 736-7-66712-256-6 Downloads: 30983 Price: Free* [ *Free Regsitration Required ] Uploader: Goltir Summary Epidemiology[pdfoftheworld.club]
  • American Journal of Epidemiology. La retina es el tejido sensible a la luz situado en el fondo del ojo. Send link to edit together this prezi using Catarata congenita Meeting learn more: Houston, we have a problem![pdfoftheworld.us]
Sex distribution
Age distribution


  • The pathophysiology of XALD is believed to arise from accumulation of saturated very long chain fatty acids (SVLCFA) within the brain.[clinicalgate.com]


  • Most FAM126A gene mutations that cause hypomyelination and congenital cataract prevent the production of hyccin. People who cannot produce any hyccin have problems forming myelin, leading to the signs and symptoms of this condition.[ghr.nlm.nih.gov]
  • A multidisciplinary approach is advisable to prevent: Spasticity: pharmacologic agents, physical therapy Ataxia: rehabilitation Seizures: anticonvulsants Cognitive developmental delay: tailored approach at school or at work Orthopedic: prevention/treatment[ncbi.nlm.nih.gov]
  • Early detection and treatment could prevent vision loss. See an eye care professional right away if you have a sudden change in vision, if everything looks dim, or if you see flashes of light.[icdlist.com]
  • Prevention - Congenital hypomyelination neuropathy Not supplied. Diagnosis - Congenital hypomyelination neuropathy signs and symptoms of Charcot-Marie-Tooth disease, Type 4E may vary on an individual basis for each patient.[checkorphan.org]
  • Patching to force the child to use the weaker eye is often needed to prevent amblyopia. The infant may also need to be treated for the inherited disorder that is causing the cataracts.[medlineplus.gov]

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