OBJECTIVE Neonatal diabetes secondary to mutations in potassium-channel subunits is a rare disease but constitutes a paradigm for personalized genetics-based medicine, as replacing the historical treatment with insulin injections with oral sulfonylurea (SU) therapy has been proven beneficial. SU receptors are widely expressed in the brain, and we therefore evaluated potential effects of SU on n...

A case of a male infant presenting in the neonatal period is described to highlight the morbidity of Prader-Willi. His features included marked hypotonia, feeding difficulty, hypogonadism and typically dysmorphic facies. Marked improvement in muscle tone was noted by 5 months of age. Emphasis is placed on its neonatal presentation and possible aetiologic mechanisms. The natural history is also ...

Abstract Background The X-linked myotubular myopathy (XLMTM) is a rare congenital disease. Its main symptoms are hypotonia, dysmorphic facial features, respiratory failure, and feeding disorder. Case presentation This study reports on male patient from Neonatal Intensive Care Unit, who presented of myopathy. After eliminating many other possible causes, he was eventually proven to bear c.197C&g...

INTRODUCTION Prader-Willi syndrome (PWS) is characterized by extensive clinical and genetic variability caused by lack of expression of imprinted genes of the chromosomal region 15q11.2-q13. The genotye-phenotype correlation has not been yet fully elucidated. AIM To analyze these correlations in order to determine the role of specifi c geneic alterations in the development of clinical symptom...

Case presentation: G.D.V.S, a male neonate, was admitted into the neonatal intensive care unit due to respiratory insufficiency. On his sixth day of life, patient presented with series tonic movements and spasm in upper inferior limbs, followed by an approximate five-minute duration, apnea central cyanosis. He had term complication-free pregnancy. admission, could be noted global hypotonia, dif...

We report a family with an undiagnosed X linked condition. The grandmother, two of her three daughters, and one of her grand-daughters have a slowly progressive proximal weakness, brisk reflexes, poor bladder function, static reduced night vision, and IgG2 deficiency. The diagnosis of the three living symptomatic females was "hereditary spastic paraplegia plus". They have lost five male childre...

The clinical and neuropathological findings in two infants with congenital nemaline myopathy are described. One patient presented at birth with severe hypotonia, respiratory failure and contractures and died shortly after the neonatal period. The other presented at age two months with hypotonia and, following a period of clinical stability, died at age seven months from respiratory failure. Pat...