Neuroimaging Features of Biotinidase Deficiency.

Biotinidase deficiency is an autosomal recessive condition caused by pathogenic variants in the BTD gene. Resultant deficiency of free biotin leads to impaired activity of the enzyme carboxylase and related neurologic, dermatologic, and ocular symptoms. Many of these are reversible on treatment, but early recognition and commencement of biotin supplementation are critical. This practice is especially important in countries where routine neonatal screening for biotinidase deficiency is not performed. In this report comprising 14 patients from multiple centers, we demonstrate the MR imaging patterns of this disorder at various age groups. Knowledge of these patterns in the appropriate clinical context will help guide early diagnosis of this treatable metabolic disorder.

Sustained improvement in urticaria pigmentosa and pruritus in a case of indolent systemic mastocytosis treated with cladribine.

Systemic mastocytosis (SM) is a myeloproliferative disorder, characterized by a clonal proliferation of abnormal mast cells accumulating in internal organs and sometimes in the skin, leading to cutaneous and systemic symptoms. Mutations within the gene KIT, which encodes the receptor tyrosine kinase (KIT) on mast cells, is found in most patients with SM. We report a case of a 62-year-old woman presenting with a pruritic rash on her limbs and trunk. Several years later she developed gastrointestinal symptoms, associated with raised serum tryptase. Skin and bone marrow biopsies confirmed a diagnosis of SM, initially presenting with urticaria pigmentosa. Responses to multiple therapies, including potent topical steroids, oral antihistamines, phototherapy and the tyrosine kinase inhibitor, nilotinib, were inadequate. Treatment with cladribine (2-chlorodeoxyadenosine) produced a marked and sustained reduction in her symptoms and serum tryptase level.

Dental experience of cleft affected children in the west of Ireland.

AIM: To investigate caries experience and initial access to dental services in a group of children with cleft lip/palate in the west of Ireland. DESIGN AND METHOD: Cross sectional study with prospective data capture and matched control. Details of children born with a cleft were obtained from all health professionals likely to be involved in delivering care to these children. Existing databases were cross-referenced to eliminate duplication or missed patients. A matched control sample was recruited from 14 schools in the region. RESULTS: A sample of 90 cleft affected children (48 male, 42 female) with any category of cleft born between 1980-1996 (i.e. 16 years) was compared with a control group of 100 non cleft children (60 male, 40 female). The DMF index was determined by a trained and calibrated clinician. Twenty-two percent (n=20) of the cleft group were caries free compared to 41% (n=41) in the control group. The combined dmf/DMF for the cleft group was 2.09 compared to 1.50 for the control (P<0.05). Separate analysis of the dmf and DMF between the two groups indicated that the difference lay in the caries found in the deciduous dentition of the cleft group. The first dental visit was at 4 years of age for the cleft group. CONCLUSIONS: Cleft affected children in the region did not receive adequate and regular dental care at the appropriate time. In view of the significantly greater risk of dental disease in clefting, particularly in the deciduous dentition, all cleft affected children should be referred for comprehensive and continued preventive dental care from the first year of life.