Case courtesy of A.Prof Frank Gaillard, Radiopaedia.org. From the case rID: 8350
Cause
18q syndrome is caused by a deletion of part of chromosome 18 with
varying numbers of genes being lost.
Symptoms
The symptoms of 18q syndrome may vary dramatically between cases,
and can include:
- Mental retardation (IQ<70)
- Developmental delay
- Growth deficiency: short stature
- Craniofacial dysmorphism: refers to an abnormality of the face and/or the head. Craniofacial dysmorphism can include abnormal growth patterns of the face or skull, and may involve the soft tissue as well as the bones. In the case of 18q-syndrome, craniofacial abnormalities will most likely include deep-set eyes, a “carp-shaped” mouth, microcephaly (small head), prominent ears, and midfacial hypoplasia (underdeveloped midfacial regions).
- Limb anomalies (including clubfoot, short thumbs)
- Eye movement disorders
- Genital hypoplasia: incomplete development of the genitals
- Hypotonia: poor muscle tone
- Hearing impairment
- Heart disease
- Skin manifestations
- Autism
- Behavioral Problems: might include hyperactivity, aggressive behavior, tantrums
- Seizures: sudden episodes of electrical activity in the brain
- Microcephaly: small head
Diagnosis
The syndrome can be
diagnosed by genetic analysis using Fluorescent In Situ Hybridization (FISH). Furthermore
brain MRI can show abnormal white matter, particularly posteriorly
and in the periventricular region. It is characterised by bilateral symmetric
deep white matter hyperintensity on T2 weighted images, with associated
involvement of the subcortical white matter, while the brainstem and
cerebellum are usually spared.
Treatment
Surgery can correct
some of the craniofacial abnormalities often present in 18q-syndrome. Beyond
this, treatment of 18q-syndrome is supportive, and can alleviate some of the
symptoms of the disease. Prognosis is highly varied.
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