Cervical spine abnormalities associated with Down syndrome.

Atlantoaxial instability (AAI) affects 10-20% of individuals with Down syndrome (DS). The condition is mostly asymptomatic and diagnosed on radiography by an enlarged anterior atlanto-odontoid distance. Symptomatic AAI, which affects 1-2% of individuals with DS, manifests with spinal cord compression.

Chronic perforation of the sigmoid colon by foreign body.

Colorectal foreign bodies (FBs) may be ingested or introduced transanally and then migrate proximally. Without a reliable history, it may be impossible to determine which way a certain colorectal FB gained access. We present a case of a nonverbal mentally retarded boy with a flat piece of plastic impacted in the sigmoid colon, the colonoscopic extraction of which failed.

Loss of seizure control due to anticonvulsant-induced hypocalcemia.

Objective: To report a case of loss of seizure control due to hypocalcemia resulting from long-term treatment with phenytoin and phenobarbital.

Case Summary: A 32-year-old mentally retarded man presented with a 12-month history of loss of seizure control, after being seizure-free for 5 years on a fixed regimen of phenobarbital and phenytoin. He had been institutionalized at the age of 10 years and had received anticonvulsant drugs since he was diagnosed with tonic-clonic epilepsy 20 years ago.

Thyroid function in Kuwaiti subjects with Down's syndrome.

Objective: To investigate the thyroid function of individuals with Down's syndrome (DS).

Methods: Thyroid function and antithyroid antibodies were measured in 58 Kuwaitis with DS who resided at a residential facility or attended rehabilitation centers.

Results: Twenty-six subjects (45%) were euthyroid and 32 (55%) had thyroid dysfunction.