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https://www.selleckchem.com/ We present the case of a three-year-old girl with normal family history who was admitted to our hospital for medical recovery. The patient had microcephaly, pontocerebellar hypoplasia, slight facial dysmorphism, axial hypotonia, epileptic seizures, absent walking skills and severe speech delay. Genetic testing identified a heterozygous intronic variant in the CASK gene, namely CASK c.278 + 5G>A, which has never been reported in the medical literature or in other databases (gnomAD, ClinVar, HGMD). In mammals as well as more distant species, the G nucleotide is fully conserved at this position, suggesting it may not tolerate variation. In silico tools predict the substitution to be deleterious. Pathogenic mutations of these gene are responsible of mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) syndrome, which overlaps completely with our patient's phenotype.IntroductionAmbulatory blood pressure monitoring (ABPM) is a non-invasive method of obtaining brachial artery pressure assessment over 24 hours while patients undergo normal daily activities. Side effects, such as peripheral petechiae, limb edema, and sleep disturbance, are usually mild and reversible. Case reportA 67-year-old male presented with excruciating left hand pain and weakness on waking up from night sleep, having worn a cuff on his left arm for a whole day in the context of 24-hour ABPM. Clinical extremeexamination confirmed hypoesthesia in the left median and ulnar nerve distribution and weakness solely affecting ulnar and sparing median innervated hand muscles. Neurophysiological testing was performed. Interestingly, although median and ulnar motor responses were abnormal the respective sensory responses were unremarkable. ConclusionTo our knowledge, this is the first reported case of simultaneous proximal median and ulnar neuropathy complicating 24-hour ABPM. From a neurophysiological standpoint, it is also intriguing as this is a rare

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