Sterol metabolism disorders and neurodevelopment-an update.

[child syndrome]

Cholesterol has numerous quintessential functions in normal cell physiology , as well as in embryonic and postnatal development . It is a major component of cell membranes and myelin , and is a precursor of steroid hormones and bile acids . The development of the blood brain barrier likely around 12 -18 weeks of human gestation makes the developing embryonic /fetal brain dependent on endogenous cholesterol synthesis . Known enzyme defects along the cholesterol biosynthetic pathway result in a host of neurodevelopmental and behavioral findings along with CNS structural anomalies . In this article , we review sterol synthesis disorders in the pre- and post-squalene pathway highlighting neurodevelopmental aspects that underlie the clinical presentations and course of Smith-Lemli-Opitz Syndrome (SLOS ), mevalonic aciduria (MVA ) or the milder version hyper-immunoglobulinemia D and periodic fever syndrome (HIDS ), Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis (ABS 1 ), congenital hemidysplasia with icthyosiform nevus and limb defects (CHILD ) syndrome , CK syndrome , sterol C 4 methyl oxidase (SC 4 MOL ) deficiency , X-linked dominant chondrodysplasia punctata 2 (CDPX 2 )/ Conradi Hunermann syndrome , lathosterolosis and desmosterolosis , We also discuss current controversies and share thoughts on future directions in the field .

Diseases
Validation

Diseases presenting "nevus" symptom

child syndrome

cowden syndrome

dystrophic epidermolysis bullosa

epidermolysis bullosa simplex

gm1 gangliosidosis

kabuki syndrome

lamellar ichthyosis

liposarcoma

malignant atrophic papulosis

oculocutaneous albinism

proteus syndrome

sneddon syndrome

This symptom has already been validated