An achondroplasic case with foramen magnum stenosis, hydrocephaly, cortical atrophy, respiratory failure and sympathetic dysfunction.

[achondroplasia]

Achondroplasia is a relatively frequent genetic disorder that may lead to limb weakness , motor -mental retardation , hydrocephaly , and respiratory disorders . In this pathology , foramen magnum stenosis and accompanying disorders like respiratory depression is well documented .A 2 .5 year -old child with the diagnosis of achondroplasia admitted to our clinic with severe respiratory depression , limb weakness , and motor mental retardation as well as sympathetic dysfunction . In radiologic evaluations , severe foramen magnum stenosis was detected . The patient was operated and posterior fossa decompression was accomplished to prevent compression of respiratory centers and neurons .This case is unique with the narrowest foramen magnum reported up to date and the sympathetic dysfunction which is not reported as a complication in achondroplasic patients . The authors review the relevant literature , focusing on the indications for cervicomedullary decompression in infants with achondroplasia .

Diseases
Validation

Diseases presenting "depression" symptom

22q11.2 deletion syndrome

achondroplasia

adrenal incidentaloma

adrenomyeloneuropathy

alexander disease

aromatase deficiency

cadasil

child syndrome

classical phenylketonuria

congenital adrenal hyperplasia

congenital toxoplasmosis

cushing syndrome

cutaneous mastocytosis

dracunculiasis

fabry disease

familial hypocalciuric hypercalcemia

gm1 gangliosidosis

hereditary cerebral hemorrhage with amyloidosis

krabbe disease

locked-in syndrome

malignant atrophic papulosis

oligodontia

oral submucous fibrosis

phenylketonuria

sneddon syndrome

triple a syndrome

trochlear dysplasia

von hippel-lindau disease

This symptom has already been validated