Pachygyria in Weaver Syndrome
We report a patient, the second living child of a nonconsanguineous couple who had two spontaneous 1sttrimester abortions prior to this conception. The pregnancy was complicated only by a maternal urinary tract infection. The patient was delivered by Caesarian section at term due to fetal size. Birth measurements were 5.1 kg (>95th centile), length 22 inches (>95th centile), and OFC 37 cm (95th centile). He was treated in the NICU for 1 week due to respiratory distress and then hospitalized again at 1 1 ⁄2 weeks for severe obstructive apnea. A tracheostomy was performed at 1 month of age followed by surgery for gastro-esophageal reflux and intestinal malrotation with a G-tube, Nissen, and LADDS procedure. Family history was remarkable only for a paternal great aunt who had mental retardation and unusual facial appearance of unknown causes.
The diagnosis of Weaver syndrome was made neonatally. His height at age 6 1 ⁄2 months was 79 cm and weight 10.6 kg (both >95th centile; both at 50th centile for a 15-month-old). OFC was 45.6 cm (75-98th centile). Thus, he had a syndrome of prenatal onset of macrosomia, micrognathia, characteristic facial appearance, hypertelorism, long upper lip, generalized redundant skin, clinodactyly of toes, capillary hemangioma on the scrotum, and a generalized paucity of movement [Fryer et al., 1997;Ramos-Arroyo et al., 1991] (Fig. 1). Chromosomes were apparently normal. Radiology findings supporting the diagnosis of Weaver syndrome included expanded metaphyses of the long bones and advanced bone maturation. There was dysharmonic ossification of the bones in the wrists and hands with markedly advanced carpal ossification centers [9 months to 3 years when the patient was 4 months of age]. At age 6 1 ⁄2 months, gross motor development was at the 1-month developmental level with visual and linguistic development at the 1-to 2-month level.
Brain MR imaging studies at 2 months of age showed pachygyria involving primarily the frontal and parietal lobes, with decreased volume of white matter in the parietal lobes (Fig. 2).
This patient fulfills diagnostic criteria for Weaver