Hasan Ali Yüksekkaya

Intestinal Involvement in Metachromatic Leukodystrophy

Metachromatic leukodystrophy is a lysosomal storage disease caused by the deficiency of the enzyme arylsulfatase A. If arylsulfatase A is deficient, sulfatide accumulates. Functionally, this accumulation results in progressive neurological deterioration. The reports about the extra nervous system manifestations of metachromatic leukodystrophy are related to the gallbladder involvement such as polyposis. Unexplained vomiting began in a 5½-year-old girl with late infantile metachromatic leukodystrophy. Endoscopy showed multiple polypoid masses in the pylor of the stomach and duodenum. Severe gastrointestinal bleedings occurred during nasogastric feeding. Intestinal intussusception developed later. To the authors’ knowledge, intestinal polypoid masses and obstruction with metachromatic leukodystrophy have not previously been reported. The persistent vomiting may be a symptom of intestinal obstruction due to intestinal polypoid masses with metachromatic leukodystrophy. There may be a trend for the development of polypoid masses in intestine as well as in the gallbladder in metachromatic leukodystrophy.

Essential thrombocythemia with Mpl W515 K mutation in a child presenting with Budd-Chiari syndrome.

Abstract Essential thrombocythemia (ET) is an extremely rare childhood disorder characterised by clonal expansion of megakaryocytic lineage in bone marrow, leading to a persistent increase in the number of circulating thrombocytes and thus increased risk for thrombotic and haemorrhagic events. The molecular mechanisms of ET are not fully understood. Most children with ET have the JAK2 V617F somatic mutation; however, another mutation, involving a W to L or K substitution at Mpl codon 515, was reported in a small proportion of adult ET patients that is extremely rare in children. Herein, we describe a Mpl W515K somatic mutation in a paediatric case of ET who presented with Budd–Chiari syndrome. No paediatric patient harbouring a Mpl W515K mutation has been previously reported.

Candida albicans menengitis in a newborn with classical galactosemia

Classical galactosemia is a rarely seen carbohydrate metabolism disorder. The frequency of sepsis significantly increases in patients with galactosemia. The most common agent causing sepsis is E. coli. Sepsis due to fungus in patients with galactosemia is rarely reported. Candida is an important cause of sepsis in newborn intensive care units especially in newborns with underlying risk factors such as prematurity and low birth weight. Although the most common etiologic agent of sepsis is E. coli in cases with galactosemia, it should be kept in mind that candida may also be causative agent of sepsis and meningitis in these patients even though there is no underlying risk factor. Also the clinical and laboratory findings of candidiasis may be obscure. For this reason, especially in newborn candida meningitis, the index of suspicion should be kept high for early diagnosis and treatment. In such patients cerebrospinal fluid analysis, culture and brain imaging should be done necessarily, because early diagnosis and treatment will be life saving. In this article we reported a galactosemia case with the diagnosis of meningitis and Candida albicans grown in his blood culture derived on the fourth day of admission to clinic.