Congenital methemoglobinemia type II in a 5-year-old boy

Congenital methemoglobinemia type II in a 5‐year‐old boy

Congenital Methemoglobinemia is a rare neurologic condition which can mimic other diseases such as epilepsy syndromes and leukodystrophies. The responsible gene, CYB5R3, is not typically included on commonly order neurologic and epilepsy panels. We recommend that laboratories include this gene on these tests which often precede larger-scale genetic studies.

Multivisceral Hydatidosis in a 5-Year-Old Boy

Xanthogranulomatous pyelonephritis report of a case in a 5 year old boy

Xanthogranulomatous pyelonephritis is an unusual type of the kidney infection which is characterized by infiltration of mononuclear inflammatory cells and lipid laden macrophages ( foam cells). It is manifested by a firm, lobulated and yellowish kidney mass which is difficult to differentiate from renal cell carcinoma grossly. Six out of 1000 cases of cryonic pyelonephritis which are treated su...

Chronic Recurrent Multifocal Osteomyelitis in a 9-year-old Boy

  Chronic recurrent multifocal osteomyelitis (CRMO) is a rare aseptic, auto-inflammatory bone disorder. CRMO presents with bone pain with or without fever. The diagnosis of CRMO is a diagnosis of exclusion and should be included in the differential diagnosis of chronic inflammatory bone lesions in children. Cultures of the bone are typically sterile, antibiotic therapy does not result in clinic...

Early Puberty in a Two-year-old Boy

Precocious Puberty in a 2-year-old boy  A 2-year-old boy with precocious isosexual matura- (3) Lion is reported.  The pubertal values of serum LH, FSH and Testoste- (4) on and lack of any other pathologic finding were in favour of diagnosis of idiopathic sexual precocity.  The L.R.F. response test was of the adult pattern. The serum LH, FSH and Testosterone decreased following (5) treatment ...