Tag Archives: CNS

Subacute Encephalopathies (Rapidly Progressive Dementias)

This is a group of conditions that are collected under the term subacute encephalopathy, which is also called rapidly progressive dementias. These conditions manifest with cognitive dysfunction over weeks or months. Therefore the onset and progression is slower than encephalopathy due to systemic disease and faster than usual causes of dementia which progress over years. … Continue reading Subacute Encephalopathies (Rapidly Progressive Dementias)

Non-vasculitic Autoimmune Inflammatory Meningoencephalitis (NAIM)

Clinical features: Progressive encephalopathy, cognitive impairment. Ataxia, seizures, tremors and visual hallucinations can occur. Findings on investigations: ESR may be raised SS-A or SS-B: may be positive CSF analysis: Often raised WCC and protein Immunoglobulin (Ig)G index and synthesis rate EEG: mild-moderate diffuse slowing MRI: normal Cerebral angiography: normal Pathology, brain biopsy: Leptomeningeal perivascular lymphocytic … Continue reading Non-vasculitic Autoimmune Inflammatory Meningoencephalitis (NAIM)

Glucose Transporter Type I Deficiency Syndrome GLUT1 DS

Clinical features: Seizures, developmental delay, spasticity, acquired microcephaly, and ataxia Dystonia Genetics: Autosomal dominant, de novo mutation SLC2A1 gene, Findings on investigations: CSF: low glucose, low glucose:serum ratio, low CSF lactate Erythrocyte glucose transporter activity: reduced uptake into erythrocytes Related articles: Approach to movement disorders, approach to ataxia, approach to dystonia, Epilepsy,

Niemann-Pick Disease

Diagnosis: A type of lysosomal storage disease Biochemical diagnosis: Fibroblast culture to test for impaired LDL-cholesterol trafficking. Filipin staining: accumulated free cholesterol. Impaired LDL-induced cholesterol ester formation. A variant biochemical form exists Genetics: Autosomal recessive Niemann-Pick disease type C: gene= NPC1 at 18q11 or NPC2 14q Clinical features: Type A: Infantile, severe, cherry red macula, … Continue reading Niemann-Pick Disease

Cerebrotendinous Xanthomatosis

Clinical features: Neonates: cataracts, diarrhea, pyramidal and cerebellar signs, learning disability later on Adults: Seizures, dementia, myelopathy (spinal form), Enlarged tongue, tendon xanthomas, premature vascular disease, cataracts Genetics: Autosomal recessive, CYP27A1 gene on chromosome 2q, sterol 27-hydroxylase deficiency, Findings on investigations: Lipid profile: increased cholesterol CT: white matter hypdensities in cerebrum, cerebellar dentate nucleus hypdensities, … Continue reading Cerebrotendinous Xanthomatosis

Refsum Disease

A type of leukodystrophy. A type of peroxisome disorder. Synonyms: a.k.a. hereditary ataxic neuropathy a.k.a. phytanic acid storage disease a.k.a. hereditary motor sensory neuropathy type IV a.k.a. heredopathia atactica polyneuritiformis Clinical features: Deafness, ataxia, anosmia Retinitis pigmentosa (night blindness) Progressive peripheral neuropathy Ichthyosis: dry scaly skin Cardiac arrhythmias Short metacarpals and metatarsals Findings on investigations: … Continue reading Refsum Disease

Zellweger Syndrome

Synonyms: a.k.a. cerebro-hepato-renal syndrome Diagnosis: A type of Leukodystrophy and peroxisome biogenesis disorders (PBD) Confirmed by Serum very long chain fatty acids: elevated Genetics: PEX3 gene mutations Clinical features: Severe weakness, hypotonia, seizures and developmental delay high forehead, underdeveloped eyebrow ridges, deformed earlobes Hepatomegaly Facial features: high forehead, hypoplastic supraorbital ridges, and midface hypoplasia. A … Continue reading Zellweger Syndrome

Megalencephalic Leukodystrophy with Subcortical Cysts

Diagnosis: A type of leukodystrophy Genetics: MLC1 gene mutation Clinical features: Large head circumference Findings on investigations: MRI: subcortical cysts in the frontal and temporal poles Related articles: White matter diseases, Leukodystrophies,

Vanishing White Matter disease VWM

Synonyms: a.k.a. leukoencephalopathy with vanishing white matter a.k.a. childhood ataxia and cerebral hypomyelination CACH Diagnosis: A type of leukodystrophy. A type of dysmyelination Genetics: Autosomal recessive Mutations in one of five genes for translation factor (eukaryotic initiation factor 2B, elF2B) on chromosome 3: ELF2B1, ELF2B2, ELF2B3, ELF2B4, ELF2B5 Clinical features: <6 year olds at presentation, … Continue reading Vanishing White Matter disease VWM

Pelizaeus-Merzbacher-Like Disease

A type of leukodystrophy Genetics: heterogeneous Autosomal recessive, Protein= gap junction protein 12 a.k.a. connexin 46.6 (Cx 46.6), a.k.a. connexin 47 (Cx 47), Gene= GJA12 gene mutation Clinical features: First months of life: impaired motor development and nystagmus Later on: ataxia, dystonia, dysarthria, and progressive spasticity Spastic paraplegia: childhood onset, progressive and may occur without … Continue reading Pelizaeus-Merzbacher-Like Disease