Tag Archives: Metabolic
Synonyms: a.k.a. alpha-galactosidase A deficiency a.k.a. Angiokeratoma corporis diffusum Clinical features: Rash: Telangiectasia on lower trunk and upper legs Peripheral neuropathy: painful Stroke Cardiac and renal dysfunction Genetics: X-linked recessive Findings on investigations: Leukocyte alpha-galactosidase A: low CT: pulvinar hyperdensity (mineralization) MRI brain: Pulvinar sign T1 hyperintensity Other tests: Basic metabolic panel: creatinine: renal failure … Continue reading Fabry Disease: alpha-galactosidase A deficiency
Tangier disease: Familial alpha-lipoprotein deficiency
Synonyms: High density lipoprotein HDL deficiency, Clinical features: Enlarged orange tonsils Impaired pain and temperature sensation Findings on investigations: Lipid profile: low to absent HDL Related articles: Approach to weakness, approach to sensory deficits, neuromuscular disease patterns, polyneuropathy, Small fibre sensory neuropathy,
Heavy Metal Neuropathy and Solvent Neuropathy
Diagnosis: Neuropathy +documented high heavy metal level +improvement of symptoms/signs/NCS/EMG after withdrawal of agent Clinical features: Clinical features of neuropathy: may be motor neuropathy, sensori-motor polyneuropathy Findings on investigations: NCS/EMG: Axonal pattern Specific causes: Lead neuropathy (see lead poisoning), Mercury (see mercury poisoning), Others, arsenic, thallium, gold, N-Hexane inhalation Related articles: Approach to weakness, approach … Continue reading Heavy Metal Neuropathy and Solvent Neuropathy
Alcohol Neuropathy
It is unclear if alcoholism without associated nutritional deficiency can cause neuropathy Clinical features: Painful sensory polyneuropathy. Pain on light touch a.k.a. allodynia. Loss of ankle jerks Improvement with withdrawal of alcohol and B1 supplementation Related articles: Approach to weakness, approach to sensory deficits, neuromuscular disease patterns, polyneuropathy, Nutritional neuropathy,
Chronic Renal Failure Neuropathy
Synonyms: a.k.a. uremic neuropathy Diagnosis: Clinical or electrodiagnostic features of neuropathy plus chronic renal failure and exclusion of other cause Clinical features: Distal sensorimotor neuropathy +chronic renal failure +resolves with dialysis or treatment of chronic renal failure Findings on investigations: EMG/NCS: Distal Sensorimotor neuropathy In some cases carpel tunnel syndrome Pathology/Nerve biopsy: Axonal loss Related … Continue reading Chronic Renal Failure Neuropathy
Hypophosphatemia Neuropathy
Diagnosis: Clinical features of neuropathy plus phosphate deficiency and exclusion of other causes Clinical features: Acute, Sensorimotor, areflexia, dysarthria Phostphate levels: <2.4 mg/dl Findings on investigations: NCS/EMG: Demyelinating pattern (Prolonged distal latencies, reduced conduction velocities) [case report] In some cases axonal pattern [case reports] F-waves absent Decreased recruitment (neurogenic recruitment) Pathology/Nerve biopsy: Sub-perineural edema, mild … Continue reading Hypophosphatemia Neuropathy
Nutritional Deficiency Neuropathy
Synonyms: a.k.a. nutritional neuropathy Diagnosis: The diagnosis is based on clinical features of neuropathy supported by electrodiagosis and confirmation of nutritional deficiency with exclusion of other causes +improvement of symptoms/signs/NCS/EMG after supplementation Clinical features: Usually features of polyneuropathy. Most commonly sensori-motor neuropathy +documented deficiency Findings on investigations: NCS/EMG: Usually Axonal pattern Pathology, nerve biopsy: Perineuritis … Continue reading Nutritional Deficiency Neuropathy
Acromegaly Neuropathy
Diagnosis: Clinical features of neuropathy plus diagnosis of acromegaly and exclusion of other causes Clinical features: Carpal tunnel syndrome, tarsal tunnel syndrome Polyneuropathy Findings on investigations: NCS/EMG: Carpal tunnel syndrome, tarsal tunnel syndrome Polyneuropathy Pathology, Nerve biopsy: Initially: demyelination Onion bulb formation in end stage Related articles: Approach to weakness, neuromuscular disease patterns, polyneuropathy,
Diabetic Neuropathy
There are various types of diabetic neuropathy Diabetic polyneuropathy (sensory type and sensorimotor type): Diagnosis: Features of polyneuropathy and meeting criteria for diabetes mellitus Clinical features: Symmetric sensory polyneuropathy, loss of vibration, pain, touch and temperature sensation and in some cases proprioception loss and Charcot joints Areflexia Painful May become sensorimotor Pathology, nerve biopsy: Nonspecific … Continue reading Diabetic Neuropathy