Alessio was born on January 12, 1989, at 41 weeks gestation with a birth weight of 3200 g (10th-25th), a length of 48 cm (10th), and a head circumference of 33 cm (3rd-10th). Pregnancy was normal without problems. HSCR was diagnosed on the second day and he was transferred to the paediatric hospital in Turin where the doctor preformed a colostomy at day 5. Surgery for Hirschsprung’s was done at 6 months and his colostomy was closed at 8 months. Except for the first 3 months of his life, which he spent in the hospital, he has done well and recovered well from his surgeries.
Vesicoureteric reflux of high degree was clinically observed, but fortunately it disappeared after one year of antibiotic therapy.
At 14 months, hypotonia and psychomotor development delay was observed. Due to facial anomalies a karyotype was performed and showed normal results.
He had the first long seizure at 16 months when he had a high fever: An EEG showed epileptic anomalies prevailing on the right hemisphere and sodium valproate therapy was started. He had no seizures until he was 3 years old: seizures appeared again when he had no fever, but always when he was sleeping, in the first phase of sleep. These seizures were very short, just a few minutes because we always gave him valium by rectal via. He still had seizures even when the doctor increased the dosage of sodium valproate, so they decided to change therapy and he began taking Tegretol and Sabril. We still had no results, because he still had seizures. In March 1994 we brought him to an Italian doctor who was a specialist of infantile epilepsy and this doctor suggested we try sodium valproate again, because he thought it was the best therapy for Alessio. He’s had no seizures since then.
In the meanwhile he always suffered a lot of constipation, still nowadays we have to help keep his intestine free.
When he was 4 years old he had surgery to correct penoscrotal hypospadias with penis recurvation.
Neuros who examined him noticed several minor facial anomalies: fine hair, high forehead, frontal bossing, broad nasal bridge, medially flaring thick eyebrows, downward slanting palpebral fissures, hypertelorism, epicanthus, deep set blue eyes, small nose with prominent columella, open mouth, triangular jaw, prominent chin, posterior low set ears with uplifted lobes. He also presented high arched palate, right cryptorchidism, pes planus with calcaneovalgus. Other clinical features were mild pectus excavatum, long tapered fingers, single transverse palmar creases. Microcephaly (48.5 cm, <3rd) and a severe psychomotor retardation were present. He “grasped” at 15 months, began to walk by himself when he was 3 years old, and still has no speech. He is very affectionate and smiling.
A cardiac systolic murmur was present. ECG was normal, echocardiography showed a mild fibrosis of the anterior leaflet of tricuspid with slight valvular insufficiency
MRI of the brain showed a marked hypoplasia of the corpus callosum, and the cerebral ventricular was narrow. Audiometric examination was normal, ocular fundus examination showed in OD optic papilla with grey pigmentary halo, while OS was normal. Standard karyotype was repeatedly normal, FRAXA mutation, Anglemans syndrome, and metabolic diseases were excluded.
Because of his mental retardation, he began very soon hydrotherapy, psicomotricity and physiotherapy. He is also doing hippotherapy since 3 years.
He began to go to school when he was 3 years old: since the first days he had no problem about socialization with teachers and other children.
He has always been a quiet child, very curious and always happy.