Tricho-hepato-enteric syndrome

It is a rare genetic disorder presenting in children less than 1 year of age.^[1]

• It is a genetic disorder with an autosomal recessive inheritance pattern.

• Mutations in TTC37 which encodes the putative protein Thespin, have recently been associated with Tricho-Hepato-Enteric syndrome. ^[2]

• Prognosis is poor.

• Many patients die before the age of 5 due to infections or cirrhosis.

• Failure to thrive

• Intractable diarrhea

• Intrauterine growth retardation

• Hair abnormalities – prominent forehead and cheeks, a broad nasal root and widely spaces eyes (hypertelorism)

• Facial abnormalities – their hairs are woolly, easily removed and poorly pigmented

• Signs of liver failure

• Small bowel – villous atrophy with low or no mononuclear cell infiltration of the lamina propria

• Microscopic analysis of the hair – twisted hairs of unequal size and different shapes

• Scanning electron microscopy of hair – hair budding

• Biochemical analysis of hair reveal – sulfur-deficient brittle hair

• Abnormal antibody generation – T cell dysfuntion

• No specific treatment

• Total parenteral nutrition may reduce symptoms of diarrhea

• Avoiding further damage to the liver

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