ABSTRACT
We were consulted with pictures of a 10-year-old Ukrainian boy with red maculae over a large part of his body and hypertrophy and varicose veins of the right arm and leg due to Klippel-Trenaunay syndrome.
Subject(s)
Klippel-Trenaunay-Weber Syndrome/diagnosis , Child , Humans , Hypertrophy/diagnosis , Hypertrophy/etiology , Klippel-Trenaunay-Weber Syndrome/complications , Klippel-Trenaunay-Weber Syndrome/pathology , Male , Varicose Veins/diagnosis , Varicose Veins/etiologyABSTRACT
UNLABELLED: 3-Phosphoglycerate dehydrogenase (3-PGDH) deficiency is considered to be a rare cause of congenital microcephaly, infantile onset of intractable seizures and severe psychomotor retardation. Here, we report for the first time a very mild form of genetically confirmed 3-PGDH deficiency in two siblings with juvenile onset of absence seizures and mild developmental delay. Amino acid analysis showed serine values in CSF and plasma identical to what is observed in the severe infantile form. Both patients responded favourably to relatively low dosages of serine supplementation with cessation of seizures, normalisation of their EEG abnormalities and improvement of well-being and behaviour. These cases illustrate that 3-PGDH deficiency can present with mild symptoms and should be considered as a treatable disorder in the differential diagnosis of mild developmental delay and seizures. SYNOPSIS: we present a novel mild phenotype in patients with 3-PGDH deficiency.
Subject(s)
Brain Diseases, Metabolic, Inborn/diagnosis , Brain Diseases, Metabolic, Inborn/etiology , Phosphoglycerate Dehydrogenase/deficiency , Adolescent , Brain Diseases, Metabolic, Inborn/complications , Diagnosis, Differential , Female , Humans , Intellectual Disability/complications , Intellectual Disability/diagnosis , Male , Microcephaly/complications , Microcephaly/diagnosis , Microcephaly/etiology , Seizures/complications , Seizures/diagnosis , Seizures/etiology , SiblingsABSTRACT
In a 16-month-old boy referred because of developmental delay and asymmetric motor development, chromosome analysis showed an aberrant chromosome 18 in all 25 metaphases examined. The chromosome aberration was initially interpreted either as an interstitial deletion of chromosome region 18q21.1 --> 18q21.3 or an unbalanced translocation involving the distal part of the long arm of chromosome 18. Chromosome microdissection in combination with fluorescence in situ hybridization demonstrated that the aberrant chromosome 18 had an interstitial deletion, the karyotype being: 46,XY,del(18)(q21.1q21.3). At age 27 months, his development was moderately retarded. He showed craniofacial asymmetry but no other anomalies. The clinical and cytogenetic findings are compared with previously reported patients with a terminal or interstitial deletion in the long arm of chromosome 18.
