Akademik Veri Yönetim Sistemi
CUKUROVA MEDICAL JOURNAL, cilt.44, ss.32-35, 2019 (ESCI)
Pontocerebellar hypoplasia is a rare and poor prognosis disease, Clinically, patients are initially characterized by hypotonia, followed by hypertonia, progressive microcephaly, micropenis, nonpalpable gonads, speech and malnutrition, seizures, apnea episodes. MRI shows pontocerebellar hypoplasia and the diagnosis is genetically confirmed. In this article, we present two siblings who presented with gait and speech disorder and microcephaly and were diagnosed as pontocerebellar hypoplasia type 7 due to due to phenotype and MRI findings. It was learned that the 5-year-old male patient, who had no problem in the perinatal period, had progressive deterioration in gait and speech disorder for the last 2 years. Parents had second-degree kinship and there was a similar history in his 4-year-old sister. The patient was conscious, had strabismus and diffuse pyramidal system findings. He could speak 1-2 words, micropenia was detected, gonads could not be palpated. Metabolic tests were normal. Cerebral MRI showed thinning of the corpus callosum and vermic atrophy, USG showed no gonads. In the genetic examination, TOE1 gene c. 572A>G (p.n191S) (p.Asn 191 Ser) homozygous mutations detected. Similar findings were mild in his 4-year-old sister. Genetically similar results. When investigating the etiology of walking disorder. Neuromotor retardation, suspicious genitalia, pyramidal and cerebellar progressive. pontocerebellarhipplasia should be considered, cerebral MRI findings may be helpful in the diagnosis of this syndrome.