[MIM 309 400]

(Kinky hair syndrome, occipital horn syndrome,  posterior horns syndrome, X-linked trichopoliodystrophy, X, MD, MK, MNK, HOS for Occipital Horn Syndrome, Menkes steely hair syndrome) 

Prevalence: 1/300,000. Mutation of the ATP7A gene (Xq13.3) coding for an intracellular copper transport protein: this leads to a lack of intestinal absorption of copper and a defect in synthesis of copper-dependent enzymes. 

Clinical presentation:

-         early intrauterine growth retardation;

-         progressive neurological deterioration (very early onset at the age of 6 to 8 weeks): myoclonic convulsions and hypotonia. 

-         iridic microcysts. 

-         rare, hypopigmented, stiff and brittle hair  the microscopic examination of which shows a pathognomonic axial torsion ("pili torti"). 

-         facial dysmorphism: chubby and poorly expressive face, lack of eyebrows, micrognathia, pale skin

-         often joint hyperlaxity and vascular fragility of  Ehlers-Danlos type.

-         diverticula of the bladder and the ureters (sometimes hydronephrosis). Proximal renal tubulopathy.

-         signs of pseudorachitism at radiological exam; in 11% of cases, spondylolysis or incomplete ossification of the posterior arch of C2 

-         risk of intracerebral, subdural or intestinal bleeding following the formation of aneurysms on tortuous vessels.

Sometimes pulmonary emphysema. 

Treatment: in case of early diagnosis: parenteral administration of copper

Death before 2 years except for some variants:

-        minor form: cerebellar ataxia and moderate mental retardation

-         the posterior horns syndrome : is considered as a minor form of Menkes syndrome  because there is ome residual activity of the protein encoded by the ATP7A gene; moderate intellectual deficit, bladder abnormalities (multiple and recurrent diverticula), vascular fragility and ligamentous laxity and bony protrusions ("horns" on the occipital bone, hence the name). Sometimes: vascular abnormalities: tortuous vessels, aneurysms; autonomic dysautonomia with diarrhea.

Anesthetic implications: 

risk of difficult intubation. Epilepsy. Vascular fragility. Risk of hypothermia.

References : 

• Kazim R, Weisberg R, Sun LS. 
  Upper airway obstruction and Menkes syndrome. 
  Anesth Analg 1993; 77:856-7.
• Passariello M, Amenrader N, Pietropaoli P. 
  Anesthesia for a child with Menkes disease. 
  Pediatr Anesth 2008; 18: 125-6.
• Hill SC, Dwyer AJ, Kaler SG. 
  Cervical spine anomalies in Menkes disease: a radiologic finding potentially confused with child abuse.
  Pediatr Radiol 2012; 42: 1079-82.
• Legros L, Revencu N, Nassogne M-C, Wese F-X, Feyaerts A. 
• Diverticulose vésicale liée à un syndrome de la corne occipitale. 
• Arch Pédiatr 2015 ; 22 :1147-50.

Updated: January 2019