We describe the
clinical course, as well as cytogenetic and molecular findings, of a 3-year-old obese boy with psychomotor retardation who exhibited two rare conditions:
succinic semialdehyde dehydrogenase deficiency (
SSADH deficiency, MIM 271980), a disorder of
gamma-aminobutyric acid metabolism with a heterogeneous clinical spectrum, and partial
Wilms' tumor,
aniridia, genital abnormalities, and
mental retardation (
WAGR) syndrome, an association between
Wilms' tumor,
aniridia, genitourinary malformations, and
mental retardation due to mutations involving the short arm of chromosome 11, particularly deletions at the chromosomal region 11p13 (MIM 194072). Diagnosis of
SSADH deficiency in our patient was established by demonstration of absent
enzyme activity in isolated leucocytes, and was associated with a novel missense mutation (c.587G>A; p.Gly196Asp) in the SSADH coding sequence. We further confirmed an incomplete
WAGR syndrome in this boy [karyotype 46, XY, del (11) (p13p14.2)] with a normal WT1 (Wilms' tumor) gene and an absence of pathology in the genitourinary tract, but with
obesity (
WAGR syndrome with obesity,
WAGRO syndrome). The patient also exhibited distinctive cerebral anomalies such as increased signals of the globi pallidi, internal
hydrocephalus and cerebellar vermian
atrophy. However, treatment options for this patient are limited, including supportive treatment, physiotherapy, special educational training, and
vigabatrin. In summary, we report the first patient with the exceptional rare findings of both
SSADH deficiency and partial WAGR/
WAGRO syndrome.