Congenital Microvillous Atrophy, Report of Two Consecutive Siblings with Complete Histologic, Immunohistochemical and Detailed Electron Microscopic Studies, First Report from Iran

Mahjoub, Fatemeh; Niknejad, Seyedeh Nakisa; Sadeghian, Mahnaz; Abdirad, Afshin; Sani, Mehri Najafi; Jahanzad, Issa; Talachian, Elham

doi:10.4236/ojpathology.2014.42010

Cited by 2 publications

(1 citation statement)

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“…Although the disease is rare and only about 200 cases of IDMC have been reported, it is more common in countries where consanguineous marriages are common [2]. MVID is characterized by defective transport of plasma membrane proteins to the apical brush border, due to mutations of MYO5B gene on the chromosome 18q21, encoding myosin Vb motor and a small GTP-binding protein, Rab8 [3]. It is an entity that must be remembered in the case of neonatal diarrhoea appearing during the irst 72 hours of life, without an underlying infectious or metabolic cause [4].…”

Section: Introductionmentioning

confidence: 99%

A rare cause of neonatal diarrhoea: Microvillositary inclusion disease: about a case report

Akhrif¹,

Sabib²,

Rouas³

et al. 2021

J Adv Pediatr Child Health

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Microvillositary inclusion disease also known as microvillositary atrophy is a rare congenital enteropathy containing a border abnormality in the brushes of enterocytes, manifesting as severe rebellious diarrhea in newborns and infants. It was first described in 1978 by Davidson, et al. The autosomal recessive mode of transmission is suggested because of the frequency of familial cases and inbreeding. Histopathology plays an essential role in establishing the diagnosis. In 2008, a common mutation was identified in most of the patients studied in the MYO5B gene that codes for the Myosin Vb protein, which helped in understanding the etiopathogeny of this pathology poorly described in the literature. The prognosis for this pathology is extremely bleak, requiring total parenteral nutrition for child survival. Intestinal transplantation is for the moment the only long-term solution. Materials and methods: We report the case of an infant aged 6 months, with no perinatal antecedent. There is 1st degree consanguinity, the mother has a history of deaths in younger siblings in undetermined circumstances. Who since the age of 3 days presents profuse liquid diarrhoea with malnutrition, dehydration and enormous abdominal distension? Several diagnoses were suspected before the jejune biopsy was carried out, which led to the diagnosis of a microvilliositary inclusion disease. The aim of our work is to highlight the rarest cause of neonatal rebel diarrhoea and to know how to include it among other differential diagnoses.

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Section: Introductionmentioning

confidence: 99%