Prader Willi (PWS) is the most common and rare genetic cause of obesity. Airway problems associated with obesity hypotonia, increased risk aspiration due to gastrointestinal (GI) motility hyperphagia, obstructive sleep apnea syndrome (OSAS), difficult airway management, postoperative respiratory failure narrow are factors that complicate anesthesia management. It should be noted there many anat...

Intrinsic optical signals (IOSs) induced by synaptic stimulation and moderate hypotonic swelling in brain tissue slices consist of reduced light scattering and are usually attributed to cell swelling. During spreading depression (SD), however, light-scattering increases even though SD has been shown to cause strong cell swelling. To understand this phenomenon, we recorded extracellular voltage,...

A specific variant in NDUFA1 (c.94G>C, p.Gly32Arg) has been reported pathogenic in two separate papers; we have re-evaluated the variant and suggest that it should presently not be considered a disease-causing variant. Pathogenic variants in NDUFA1 were first reported in 2007 in two unrelated male patients with an isolated complex I deficiency and developmental delay, hypotonia, ataxia, nystagm...

A child with a de novo interstitial deletion, 46,XX,del(2)(q31q33), is described. Clinical features included psychomotor retardation, hypotonia, microcephaly, hypertelorism, downward slanting palpebral fissures, macrostomia, cleft palate, micrognathia, abnormal ears, overlapping fingers, simian creases, and rocker bottom feet.

A familial four breakpoint complex chromosomal rearrangement involving chromosomes 9, 10, and 11 was ascertained through a child with dysmorphic features, hypertrophic cardiomyopathy, and hypotonia. A cryptic insertion, invisible in G banded chromosomes was identified by fluorescence in situ hybridisation (FISH) using chromosome specific libraries. Possible mechanisms of its formation as well a...

Two neonates with a history of diarrhea, abrupt apnea, and suspected sepsis were proved to have infantile botulism. Initial symptoms in both infants suggested other diagnoses. Electrophysiologic studies were important in confirming the diagnosis. Early severe infantile botulism may be rare but should be considered in neonates who have hypotonia and respiratory arrest or a sepsis-like clinical p...

Three sibs with Cohen syndrome are presented. Abnormalities present in all three children include mental retardation, hypotonia, and short philtrum with open mouth and prominent lips. The older two sibs have a similar facies and an engaging personality. The youngest child shows a different facial appearance and marked behavioural problems, thereby illustrating the intrafamilial variability whic...