Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome

Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome.

BACKGROUND The VACTERL with hydrocephalus (VACTERL-H) phenotype is recognised to be a severe manifestation of autosomal recessive Fanconi anaemia. Several families have been described in which the VACTERL-H phenotype segregates as an X linked syndrome. The mutations which cause X linked VACTERL-H syndrome are not known. OBJECTIVE To determine if mutations in FANCB, which are known to cause Fa...

FANCC ( Fanconi anaemia complementation group C )

FANCA ( Fanconi anaemia complementation group A )

Part of the FA complex with FANCC, FANCE, FANCF, and FANCG; this complex is only found in the nucleus. FANCA and FANCG form a complex in the cytoplasm, through a N-term FANCA (involving the nuclear localization signal) FANCG interaction; FANCC join the complex; phosphorylation of FANCA would induce its translocation into the nucleus.This FA complex translocates into the nucleus, where FANCE and...

Acute Lymphoblastic Leukemia Presenting as Fanconi Syndrome

Acute lymphoblastic leukemia (ALL) presenting as Fanconi syndrome (FS) is extremely rare. Here, we report a case of ALL presenting as bilateral nephromegaly following FS. A 2-year-old girl was unexpectedly diagnosed with bilateral nephromegaly. After 2 weeks, she developed general fatigue, thirst, and polyuria. Laboratory examinations revealed renal tubular acidosis, hypokalemia, hypophosphatem...

Normal pressure hydrocephalus presenting as Parkinson's syndrome.

Although extrapyramidal features in normal pressure hydrocephalus (NPH) are not uncommon, presentations with Parkinson's syndrome as the predominant feature are rare and may give rise to diagnostic difficulties. Failure of patients with parkinsonism to respond to therapy, should alert one to the possibility of NPH.