Neonatal lethal hypophosphatasia: A case report and review of literature.

ABSTRACT:

Rationale

Hypophosphatasia (HPP) is a very rare metabolic bone disease caused by loss-of-function mutations in the ALPL gene encoding the tissue nonspecific alkaline phosphatase. The severe neonatal form is considered lethal but insights into manifestations of the disease can help to increase our knowledge of the natural history for an early initiation of treatment and improvement of survival.

Patient concerns

We report the case of a newborn in which his fetal imaging showed findings of skeletal dysplasia disorder, considering initially achondroplasia as a potential diagnosis.

Diagnosis

A definitive diagnosis compatible with perinatal lethal HPP was established in the 1st days due to the presentation at birth with thoracic and pulmonary hypoplasia, bone hypomineraliza

SUBMITTER: Castells L 

PROVIDER: S-EPMC6283130 | biostudies-literature | 2018 Nov

REPOSITORIES: biostudies-literature