No abstract

Chédiak-Higashi syndrome (CHS) is a rare disorder of immune deficiency with autosomal recessive inheritance. Over the past 20 years, ∼500 cases were published worldwide. The mean age of onset is 5-6 years. We report here a case of CHS in a boy aged 2½ years who presented to us with pneumonia which turned to be Chédiak-Higashi syndrome with a novel variant, not previously described in the literature, which is caused by mutations in the gene.This case is reported for its novel mutation, and the absence of the accelerated phase until now. Awareness, early recognition and management of this condition may prevent the preterm morbidity associated with this case.

Autoimmune thyroiditis is very rare etiology of primary hypothyroidism in infancy. Hypothyroidism has a wide range of clinical presentation, from subclinical hypothyroidism to overt type. It is unclear what pathological mechanisms connect thyroid function and erythropoiesis or how thyroid disease can contribute to anemia. We report a 12-month-old infant who presented with anemia associated with early onset of overt autoimmune thyroiditis. The peculiarity of our case enables us to draw attention of physician to consider acquired hypothyroidism in the differential diagnosis of unexplained anemia even if the neonatal screening is normal and congenital hypothyroidism is a remote possibility.

This case report describes a five years old Emirati boy, who had a history of convulsions (twice) at the age of two weeks, associated with reduced activity and excessive startling response. His investigation showed hypomagnesemia with normal calcium level, normal parathyroid hormone and no urinary loss of Magnesium (Mg). Mutations in the TRPM6 gene, a member of the transient receptor potential family of cation channels, was identified by the genetic study. This gene, located on chromosome 9, is expressed in the intestinal epithelium and renal cells. TRPM6 gene plays a crucial for magnesium homeostasis which is subsequently linked to the rare metabolic disorder; Familial hypomagnesemia with secondary hypocalcemia.

Leukemias are the most common childhood malignancy. It is a systemic disease presenting with different signs and symptoms. Extramedullary manifestations, in particular myeloid sarcoma (MS), are extremely rare, often challenging to identify, even more challenging to diagnose, and more than often misdiagnosed owing to its similarity with other solid tumors. We describe a previously healthy boy, aged 4 years, who had a cardiac mass lesion, presumed to be a MS, noted in the right atrium at the time of initial routine echocardiography. The lesion resolved without surgical intervention following the institution of multi-agent chemotherapy.