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Nonenhanced CT scan of two patients showing coup injury and contrecoup injury on opposite side. (Contributed by Dr. Ravindra Kumar Garg.)
Mar. 29, 2020
Nov. 03, 2020
May. 10, 2021
Childhood Degenerative & Metabolic Disorders
Fabry disease early symptoms include neuropathic pain in extremities, poor heat and exercise tolerance, angiokeratoma, hypohidrosis, and corneal and lenticular opacities. Progressive cardiac, renal, and cerebral involvement follows, due to the storage of glycolipid in the vascular system. It is an X-linked disorder of glycosphingolipid metabolism that is caused by deficiency of alpha-galactosidase A.
Feb. 23, 2020
Susac syndrome is typically a triad of encephalopathy, retinopathy, and hearing loss, but may have an atypical presentation. Most patients do not have the clinical triad at the onset of symptoms, but rather recurrences of one or more of the components of the triad. The syndrome is self-limiting and may go on for years, with fluctuations in its course.
Aug. 01, 2021
The myotonic dystrophies (MD) are the commonest cause of adult-onset muscular dystrophy. Two distinct entities have been described: myotonic dystrophy type 1 (DM1) and myotonic dystrophy type 2 (DM2). Some important differences in the phenotypes of DM1 and DM2 include the presence or absence of congenital form, muscles primarily affected (distal vs. proximal), involved muscle fiber types (type 1 vs. type 2 fibers), and some associated multisystemic phenotypes.
Oct. 16, 2020
Neuro-Ophthalmology & Neuro-Otology
Leber hereditary optic neuropathy is a disease caused by various mutations in the mitochondrial genome and, as such, is inherited only via the maternal ovum as spermatozoa do not have mitochondria. It usually manifests as sequential binocular acute painless vision loss in sons of carrier mothers. The typical vision loss pattern is decreased visual acuity, with most patients seeing 20/200 or worse, a visual field defect involving the blind spot, and central fixation (cecocentral scotoma).
Dec. 19, 2020
MELAS is characterized by stroke-like episodes typically occurring before age 40, encephalopathy with seizures and/or dementia, and mitochondrial myopathy. Recurrent headache, loss of appetite, or recurrent vomiting are early symptoms. It is a multisystem genetic disorder usually beginning in childhood.
Jan. 11, 2021