PRUNE syndrome, or neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies (OMIM#617481), is a new rare autosomal recessive neurodevelopmental disease that is caused by homozygous or compound heterozygous mutation in PRUNE1 on chromosome 1q21. Here, We report on 12-month-old and 30-month-old girls from 2 unrelated Saudi families with typical presentations of PRUNE...

Polygraphic study in 18 men with the sleep apnoea syndrome showed central, upper airway obstructive, and mixed apnoeas. Fifty per cent of the total apnoea time was central, 33% was obstructive, and 17% was mixed. Apnoeic episodes were accompanied by oxygen desaturation, relative bradycardia and hypotonia of orofacial muscles innervated by ponto-medullary neurons. During regular breathing these ...

Hypotonia beginning at birth or early in the neo-natal period can be caused by one of the following: (1) infantile muscular atrophy; (2) benign congenital hypotonia; (3) symptomatic hypotonia (Walton, 1960). Infantile muscular atrophy is an established clinicopathological disorder in which muscular atrophy is secondary to disease of the motor neurone. Benign congenital hypotonia is characterize...

GENERALIZED NEONATAL HYPOTONIA Summary. Generalized neonatal hypotonia implies a pathologically decreased postural tone involving at least the extremities, trunk and neck occurring during the first month of life. The gestational age of the neonate, the behavioral state of the neonate at the time of the examination, and the possibility of pseudoparalysis (due to generalized pain) should be consi...

Using whole-exome sequencing, we have identified novel de novo heterozygous pleckstrin homology domain-interacting protein (PHIP) variants that are predicted to be deleterious, including a frameshift deletion, in two unrelated patients with common clinical features of developmental delay, intellectual disability, anxiety, hypotonia, poor balance, obesity, and dysmorphic features. A nonsense mut...

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...