Hyaline Vascular Variant of Castleman Disease of the Tonsil in an Adolescent: A case Report.

Castleman disease (CD) is a lymphoproliferative disorder classified into two categories as unicentric Castleman disease (UCD) or localized type and multicentric Castleman disease (MCD). A rare case of hyaline vascular variant of tonsil has been presented in which a 14 years old male presented with symptomatic unilateral hypertrophy of right tonsil. A right tonsillectomy was done and surgical pathology report was concluded as hyaline vascular variant of Castleman's disease.Castleman disease (CD) is a rare lymphoproliferative disorder also called as giant lymph node hyperplasia, angiofollicular lymph node hyperplasia (AFH), angiomatous lymphoid hematoma and follicular lymphoreticuloma. The treatment of symptomatic patients with UCD is complete surgical excision (as in present case). In cases with incomplete resection, adjuvant radiotherapy can be given.

Novel mutation in the HSD3B7 gene causes bile acid synthetic disorder and presents as recurrent liver failure in early childhood.

Bile acid synthetic disorders are rare inborn errors of metabolism, and presentations include neonatal cholestasis, neurological disease or deficiency of fat-soluble vitamins. Affected patients fail to produce standard bile acids but accumulate unusual bile acids and intermediates, resulting in liver failure and complications. Most of them improve with bile acid supplementation, but delaying initiating treatment is detrimental to the outcome.A young child presented to us with recurrent episodes of acute liver failure. In the first episode, both coagulopathy and encephalopathy improved on supportive treatment, but the aetiological evaluation was inconclusive. During the second presentation, whole-exome sequencing was sent, identifying a compound heterozygous novel mutation in the 3-ß-hydroxysteroid dehydrogenase type 7 gene leading to bile acid synthetic defect.