Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance.

[homocystinuria without methylmalonic aciduria]

We report on the case of a 36 -year -old Hispanic woman with a spinal cord infarct , who was subsequently diagnosed with methylmalonic aciduria and homocystinuria , cblC type (cblC ). Mutation analysis revealed c .271 dupA and c .482 G > A mutations in the MMACHC gene . The patient had a past medical history significant for joint hypermobility , arthritis , bilateral cataracts , unilateral hearing loss , anemia , frequent urinary tract infections , and mental illness . There was no significant past history of mental retardation , failure to thrive , or seizure disorder as reported in classic cases of cblC . Prior to the thrombotic incident , the patient experienced increased paresthesia in the lower extremities , myelopathy , and impaired gait . Given her previous psychiatric history , she was misdiagnosed with malingering until hemiplegia and incontinence became apparent . The authors would like to emphasize the recognition of a neuropsychiatric presentation in late onset cblC . Ten other reported late onset cases with similar presentations are also reviewed .

Diseases
Validation

Diseases presenting "mental retardation" symptom

achondroplasia

alexander disease

alpha-thalassemia

aniridia

aromatase deficiency

canavan disease

classical phenylketonuria

coats disease

cohen syndrome

cowden syndrome

cystinuria

dentin dysplasia

familial hypocalciuric hypercalcemia

homocystinuria without methylmalonic aciduria

hydrocephalus with stenosis of the aqueduct of sylvius

kabuki syndrome

kallmann syndrome

lamellar ichthyosis

lymphangioleiomyomatosis

monosomy 21

phenylketonuria

primary hyperoxaluria type 1

proteus syndrome

pyruvate dehydrogenase deficiency

sneddon syndrome

triple a syndrome

wolf-hirschhorn syndrome

zellweger syndrome

This symptom has already been validated