The syndrome of the occipital horn is a disorder of the metabolism of the Cuivre resulting from a change of the Gène coding the Enzyme responsible for the intracellular transport of copper. It is about the minor form of the Maladie of Menkès.
The name of this disease comes from the existence of calcification being at the level of the occipital insertion of the Sternocleidomastoid muscle.

Other names

• Cuti-reactions laxa related to X

Etiology

Change of the Gene MNK localized on the locus q13.3 of the Chromosome X coding a conveying protein of copper.

Incidence and Prevalence

The incidence of this disease is of 1 child on 100  000 births, is 7 in France per annum.

Description

The signs of the disease are much more discrete than those of the disease of Menkès. The intelligence is in the preserved majority of the cases.

Diagnosis

Private clinic

• Laxity of the articulation S and the Skin
• vesical Diverticulum
• umbilical Hernia or inguinale
• vascular Anomalies
• subtle Anomalies of muscular tonicities

Biology

• Concentration low of copper and the Céruléoplasmine but less important than in the disease of Menkès.
• Study of the metabolism of copper by culture of Fibroblast.

Genetics

• Several genetic techniques make it possible to highlight a change (80  % of the cases) or a délétion (20  %) of the cases.

Differential diagnosis

The genetic Council

Mode of transmission

recessive Transmission related to X

Prenatal diagnosis

If the parental change is known, the prenatal diagnosis is possible.

Sources

• Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MANDELEVIUM. MIM Number: 304150 * GeneTests: Medical Genetics Information Resource (database online). Copyright, University off Washington, Seattle. 1993-2005

occipital Horn

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