A recessive PRDM13 mutation results in congenital hypogonadotropic hypogonadism and cerebellar hypoplasia.

The positive regulatory (PR) domain containing 13 (PRDM13) putative chromatin modifier and transcriptional regulator functions downstream of the transcription factor PTF1A, which controls GABAergic fate in the spinal cord and neurogenesis in the hypothalamus. Here, we report a recessive syndrome associated with PRDM13 mutation. Patients exhibited intellectual disability, ataxia with cerebellar hypoplasia, scoliosis, and delayed puberty with congenital hypogonadotropic hypogonadism (CHH).

Anticonvulsant treatment associated with intractable hypocalcaemia in a female child with hypoparathyroidism.

Background: We report the case of a female infant with hypoparathyroidism due to an activating mutation in the calcium-sensing receptor gene.

Case Report: The child presented in the neonatal period with clinical seizures associated with severe hypocalcaemia, hyperphosphataemia, low parathyroid hormone levels and elevated urine calcium:creatinine ratios. She required intravenous calcium and phenobarbitone initially, and then oral 1-alfacalcidol (1-AC) and phenobarbitone were started.

Incidence and modes of presentation of childhood type 1 diabetes mellitus in Malta between 2006 and 2010.

Aim: To assess the incidence and mode of presentation of type 1 diabetes mellitus (T1DM) in children and adolescents younger than 14 yr of age between January 2006 and December 2010 in Malta.

Methods: A nationwide prospective study which collected data from newly diagnosed T1DM children who presented to the only paediatric diabetes team available in Malta. The degree of ascertainment was estimated to be 100%.