Infantile nephropathic cystinosis: case series and review of literature

Cystinosis is a rare metabolic disease with an autosomal recessive inheritance. It is characterized by deposition of an extraordinary amount of cystine in different organs of the body. Children with infantile nephropathic cystinosis [INC] present with failure to thrive, polyuria, polydipsia and photophobia in early infancy. They progress to chronic renal failure [CRF] between the ages 5 to 10 years. The diagnosis of cystinosis should be considered in young children with failure to thrive or CRF of unknown etiology. Cysteamine is effective in delaying the progression of this disease. Four patients with INC from two families were followed over the last few years. All of them presented with polyuria, polydipsia, failure to thrive and rickets. Laboratory findings included glucosuria, hypophosphatemia, hypokalemia, proteinuria and later on azotemia. Therapy with cysteamine showed clinical improvement when started early

Gastric sarcoidosis in children: a case report and review of the literature

Sarcoidosis is a systemic granulomatous disease of unknown etiology that is characterized by the formation of noncaseating granulomas. Gastrointestinal [GI] tract involvement in sarcoidosis is rare. Gastric sarcoidosis, particularly involving the antrum, affects approximately 10% of patients with systemic disease. GI sarcoidosis commonly occurs subclinically, with clinical manifestations present in only 0.1-0.9% of patients with the disease. This is a rare case report of a 8 year Saudi girl with symptomatic gastric sarcoidosis. The patient presented with anorexia, postprandial upper abdominal pain and fullness, and weight loss of 3 months duration. She was presented acutely after 6 months with attack of hematemesis. Endoscopic examination of upper gastrointestinal tract revealed bleeding nodular mucosal irregularities. Mucosal biopsies revealed noncaseating granulomatous inflammation involving the gastric mucosa confirming the diagnosis of sarcoidosis. Corticosteroid therapy was started and the symptoms abated almost immediately. We also offer a review of the literature

Chediak higashi syndrome: Report of a case with an accelerated phase and review of literature

Chediak-Higashi syndrome [CHS] is a rare autosomal recessive disorder characterized by partial albinism, recurrent pyogenic infection and large granules in all granule-containing cells. We present a case of 1 1/2 year- old non Kuwaiti boy who presented in the accelerated phase of CHS with fever, pancytopenia, lymphadenopathy and hepatosplenomegaly. High dose of methylprednisolone and sandglobulin were given for treatment of the accelerated phase with clinical response to the therapy. Unfortunately, allogenic bone marrow transplantation for HLA-matched father was postponed as the procedure is not available in Kuwait and could not be done abroad because of financial reasons

Difficulties in the diagnosis of familial hemophagocytic lymphohistiocytosis

Hemophagocytic lymphohistiocytosis [HLH] is characterized by proliferation and non-malignant activation of histiocytes and T lymphocytes in the reticuloendothelial system. Diagnostic guidelines include fever, splenomegaly, cytopenia, hypertriglyceridemia and / or hypofibrinogenemia with hemophagocytosis in the bone marrow, spleen or lymph nodes. In many patients diagnosis is difficult due to lack of diagnostic criteria, hemophagocytosis, variability of clinical presentation, spontaneous improvement and the absence of a specific marker of the disease. When there is strong clinical suspicion of familial hemophagocytic lymphohistiocytosis [FHL], chemotherapy and immunosuppressor treatment should be started early to achieve complete cure and should be followed by hematopoietic stem cell transplantation. We present a case of a 13 months old boy who presented with fever, anemia and thrombocytopenia, enlarged liver and spleen, hyperferritinemia, hypertriglyceridemia and hypertransaminasemia without the finding of hemophagocytosis in the bone marrow. The patient improved spontaneously but presented with reactivation of the disease six weeks later and died after few weeks

Always look beyond the stones: hyperoxaluria overlooked

We report a case of hyperoxaluria type I in a nine-yearold boy with nephrolithiasis. His initial management included multiple percutaneous nephrolithomies and lithotripsy. Metabolic screening was not undertaken initially. Hyperoxaluria was finally diagnosed by elevated urine oxalate [1.363 mmol/24h]. A diagnosis of hyperoxaluria type I was confirmed by liver biopsy. His kidney function was nearly normal and he was started on pyridoxine and crystallization inhibitors. He will require a liver transplant to cure his primary hyperoxaluria. Clinical clues of primary hyperoxaluria type I are positive family history or presentation with several renal stones. Irrespective of the above, all patients with first presentation of renal calculi should undergo metabolic screening including urinary oxalate level determination