Metabolic pathways: catabolism of branched-chain amino acids (1)

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ICD = isovaleryl-CoA dehydrogenase, deficient in isovaleric acidemia, resulting in increased concentrations of hydroxyisovaleric acid and other metabolites; BCKDH = branched chain alpha-keto acid dehydrogenase, deficient in MSUD; MCC = 3-methylcrotonyl-CoA carboxylase, deficient in methylcrotonylglycinuria; DH = dehydrogenase; PCC = propionyl-CoA carboxylase, deficient in propionic acidemia; MCM = methylmalonyl CoA mutase, deficient in methylmalonic aciduria. (Contributed by Dr. Georg F Hoffmann.)

Childhood Degenerative & Metabolic Disorders

Neurodegeneration with brain iron accumulation

Neurodegeneration with brain iron accumulation (NBIA) is a group of rare, genetic neurologic disorders characterized by abnormal accumulation of iron in the basal ganglia. Common features of NBIA include the following: (1) occurrence at a young age, generally after earliest childhood; (2) a motor disorder, mainly of extrapyramidal type, characterized by dystonic postures, muscular rigidity, involuntary movements of choreoathetoid or tremulous type, but with findings suggesting corticospinal tract dysfunction as well; (3) mental changes indicative of dementia; and (4) a relentless, progressive course extending over several years, leading to death in early adulthood.

Aug. 13, 2021
Infectious Disorders

Cat-scratch disease

Cat-scratch disease results from infection with Bartonella henselae. The organism is transmitted to humans typically from a scratch or bite from an infected cat in the 2 weeks preceding symptom onset. Most infections are characterized by localized lymphadenopathy and low-grade systemic features that clear spontaneously. On rare occasion, encephalopathy, seizures, and other neurologic manifestations may accompany cat-scratch disease.

Oct. 11, 2020
General Neurology

Cerebral edema

Oct. 27, 2020
Stroke & Vascular Disorders

Fibromuscular dysplasia

Fibromuscular dysplasia is a relatively uncommon multifocal arterial disease of unknown cause, characterized by nonatherosclerotic abnormalities involving the smooth muscle, fibrous and elastic tissue, of small- to medium-sized arterial walls. Cerebrovascular lesions may include arterial dissection and aneurysms. The most common neurologic symptoms are nonspecific, including headaches, vertigo, pulsatile tinnitus, sudden hearing loss, altered mentation, neck pain, and syncope.

Dec. 02, 2020
Infectious Disorders

Mycoplasma pneumoniae infection: neurologic complications

Apr. 27, 2021
Infectious Disorders

Brain abscess

A brain abscess is a pus-filled swelling in the brain. Brain abscess is an important complication of both systemic and pericranial infections (sinusitis, otitis, etc.), of cranial trauma, and of neurosurgical procedures. The classic presentation of brain abscess is headache, fever, and focal neurologic signs. In most patients, however, this triad is not found, and presentation is that of a subacutely developing intracerebral mass lesion.

May. 31, 2021
General Neurology

Lumbar disc disease

Symptoms of lumbar disc disease include low back pain in association with disc narrowing, pain in the buttocks or hips, radicular pain in the legs, leg weakness or numbness, sciatica caused by disc herniation, or a cauda equina syndrome. Onset is usually spontaneous, but can be associated with heavy lifting, trauma, running, coughing, or sneezing.

Mar. 14, 2021
Peripheral Neuropathies

Chronic autonomic neuropathies

Autonomic neuropathies consist of acquired or inherited diseases resulting from a disturbance of the peripheral autonomic nervous system. Clinical features vary depending on relative involvement of distal sympathetic, cholinergic, or adrenergic systems.

Aug. 09, 2019

Metabolic pathways: catabolism of branched-chain amino acids (1)

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Neurodegeneration with brain iron accumulation

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