Dubinjohnson Syndrome

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ID/CC

PE Labs

Imaging Gross Pathology Micro Pathology Treatment Discussion

A 19-year-old male with a URI visits his family doctor because he is concerned about yellowness in his eyes (= JAUNDICE), which he has noticed whenever he is fatigued or is suffering from a minor infection.

He has no history of dark-colored urine, clay-colored stools, abdominal pain, blood transfusions, or drug use. He is immunized against hepatitis B and does not drink alcohol.

Normal except for mild scleral icterus; no hepatosplenomegaly; no signs of chronic liver failure.

Moderately increased serum bilirubin, predominantly unconjugated; normal serum transaminases and alkaline phosphatase; normal serum albumin; serum bilirubin rises after 24-hour fast,

No metabolic treatment available.

The most common example of idiopathic hyperbilirubinemia is Gilbert's disease, which is autosomal dominant with variable penetrance; due to a defect in bilirubin transport from serum to the conjugation site or to defective uptake by liver cell. Activity of glucuronyl transferase may be low. Bilirubin levels seldom exceed 5 mg/dL, mainly unconjugated, and may vary inversely with caloric intake. p.23l

ID/CC

Labs

Imaging Gross Pathology

Micro Pathology Treatment Discussion

A 23-year-old white female is brought to the ER because of strange, dreamlike hallucinations and blurred vision that she experienced one day after spending all morning in the sun painting her house (exposure to sun may precipitate attacks).

The patient had undergone two previous laparotomies for apparent acute abdomen, but no pathology was found. She has had several episodes of recurrent abdominal pain.

VS: no fever or tachycardia. PE: pupils are of unequal size (= ANISOCORIA); generalized weakness and hypoactive deep-tendon reflexes; disorientation; foot drop; urine very dark and foul-smelling.

UA: increased urine porphobilinogen and gamma-aminolevulinic acid. Lytes: hyponatremia.

Liver infiltrated with porphobilinogen; centrJ and peripheral nervous system myelin sheath degeneration.

Degeneration of myelin sheath.

High-carbohydrate diet; glucose; hematin.

An autosomal-dominant deficiency in an enzyme of porphyrin metabolism (porphobilinogen deaminase) that leads to systemic symptoms, acute abdominal pain, neuropsychiatry; signs and symptoms, and CNS and peripheral neuropathy. Acute intermittent porphyria is differentiated from other porphyrias by its lack of photosensitive skin lesions. Sun exposure and drugs (e.g., sulfa, barbiturates) may precipitate attacks.

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