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Cerebral white matter atrophy

MedGen UID:
Concept ID:
Anatomical Abnormality
HPO: HP:0012762


The presence of atrophy (wasting) of the cerebral white matter. [from HPO]

Conditions with this feature

Hypomyelination and Congenital Cataract
MedGen UID:
Concept ID:
Congenital Abnormality
Hypomyelination and congenital cataract (HCC) is usually characterized by bilateral congenital cataracts and normal psychomotor or only mildly delayed development in the first year of life, followed by slowly progressive neurologic impairment manifest as ataxia, spasticity (brisk tendon reflexes and bilateral extensor plantar responses), and mild-to-moderate cognitive impairment. Dysarthria and truncal hypotonia are observed. 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. Cataracts may be absent in some individuals.
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1
MedGen UID:
Concept ID:
Disease or Syndrome
Early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy-1 (PEBEL1) is an autosomal recessive severe neurometabolic disorder characterized by rapidly progressive neurologic deterioration that is usually associated with a febrile illness. Affected infants tend to show normal early development followed by acute psychomotor regression with ataxia, hypotonia, respiratory insufficiency, and seizures, resulting in coma and death in the first years of life. Brain imaging shows multiple abnormalities, including brain edema and signal abnormalities in the cortical and subcortical regions (summary by Kremer et al., 2016). Genetic Heterogeneity of PEBEL See also PEBEL2 (618321), caused by mutation in the NAXD gene (615910) on chromosome 13q34.
Congenital muscular dystrophy with intellectual disability and severe epilepsy
MedGen UID:
Concept ID:
Disease or Syndrome
A rare fatal inborn error of metabolism disorder with characteristics of respiratory distress and severe hypotonia at birth, severe global developmental delay, early-onset intractable seizures, myopathic facies with craniofacial dysmorphism (trigonocephaly/progressive microcephaly, low anterior hairline, arched eyebrows, hypotelorism, strabismus, small nose, prominent philtrum, thin upper lip, high-arched palate, micrognathia, malocclusion), severe, congenital flexion joint contractures and elevated serum creatine kinase levels. Scoliosis, optic atrophy, mild hepatomegaly, and hypoplastic genitalia may also be associated. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the DPM2 gene on chromosome 9q34.
Combined oxidative phosphorylation deficiency 48
MedGen UID:
Concept ID:
Disease or Syndrome
Megacystis-microcolon-intestinal hypoperistalsis syndrome 4
MedGen UID:
Concept ID:
Disease or Syndrome
Megacystis-microcolon-intestinal hypoperistalsis syndrome-4 (MMIHS4) is a severe early-onset disorder characterized by impaired smooth muscle contractility in the bladder and intestines (Kandler et al., 2020). For a discussion of genetic heterogeneity of MMIHS, see 249210.

Professional guidelines


Dayalu P, Albin RL
Neurol Clin 2015 Feb;33(1):101-14. doi: 10.1016/j.ncl.2014.09.003. PMID: 25432725

Recent clinical studies


Binka E, Sun LR, Gailloud P, Chiu JS
Cardiol Young 2019 Aug;29(8):1107-1109. Epub 2019 Jul 10 doi: 10.1017/S1047951119001537. PMID: 31288876Free PMC Article


Liu C, Edwards S, Gong Q, Roberts N, Blumhardt LD
J Neurol Neurosurg Psychiatry 1999 Mar;66(3):323-30. doi: 10.1136/jnnp.66.3.323. PMID: 10084530Free PMC Article

Clinical prediction guides

Liu C, Edwards S, Gong Q, Roberts N, Blumhardt LD
J Neurol Neurosurg Psychiatry 1999 Mar;66(3):323-30. doi: 10.1136/jnnp.66.3.323. PMID: 10084530Free PMC Article

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