Infantile multisystem neurologic, endocrine, and pancreatic disease (IMNEPD) is an extremely rare progressive multisystem disease characterized by intellectual disability, progressive cerebellar atrophy, postnatal microcephaly, failure to thrive, hearing impairment, polyneuropathy, and organ fibrosis with exocrine pancreas insufficiency. Patients invariably show exocrine pancreatic insufficiency with reduced pancreas elastase levels.
IMNEPD has been reported in only a handful of patients from less than 10 families. This disease is transmitted as an autosomal recessive pattern.
Mutations in PTRH2 gene are the cause of infantile multisystem neurologic, endocrine, and pancreatic disease (INMEPD). This gene plays an important role in regulating cell survival and death; by an integrin-signaling pathway for cells attached or lost their attachment to the extracellular matrix (ECM). It interacts with transcriptional regulator amino-terminal enhancer of split (AES) to promote apoptosis in a process called anoikos.
Picker-Minh et al., (2016) descried five patients from two consanguineous Tunisian and Saudi families. All patients presented with neurological features including: intellectual disability, ataxia, motor delay, severe speech delay, and sensorineural hearing loss. In addition, they all had exocrine pancreatic insufficiency with reduced pancreas elastase levels that was partly associated with failure to thrive in the first years of life and consecutive deficiency of lipophilic vitamins. A homozygous missense mutation (c.254A > C) in the PTRH2 gene was detected in all affected patients.
See: [Saudi Arabia> Picker-Minh et al., (2016)]
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