An eleven-year-old clinically dysmorphic and devel-opmentally retarded male child presenting with com-plaints of 5 episodes of recurrent cholestatic jaundice since 3 years of age was evaluated. Imaging revealed featur...An eleven-year-old clinically dysmorphic and devel-opmentally retarded male child presenting with com-plaints of 5 episodes of recurrent cholestatic jaundice since 3 years of age was evaluated. Imaging revealed features consistent with congenital extrahepatic porto-caval shunt(Abernethy type 1b), multiple regenerative liver nodules and intrahepatic biliary radical dilatation. The presence of ductal paucity and trisomy 8 were con-firmed on liver biopsy and karyotyping. The explanation for unusual and previously unreported features in the present case has been proposed.展开更多
<strong>Introduction</strong><strong>:</strong> Warkany syndrome, also called trisomy 8 mosaicism (T8M), is a rare genetic abnormality characterized by a large phenotypic variability. This hete...<strong>Introduction</strong><strong>:</strong> Warkany syndrome, also called trisomy 8 mosaicism (T8M), is a rare genetic abnormality characterized by a large phenotypic variability. This heterogeneity leads to delayed diagnosis in the majority of cases. Frequently, development retardation is the first apparent anomaly that imposes genetic study, and hence diagnosis is done. In other situations, the revealing presentation is atypical. <strong>Aims:</strong> Report a case of T8M in a child followed up for recurrent respiratory infections and insists on the global assessment of patients. <strong>Case Description:</strong> The patient, aged six years old, has been followed up since his first year for recurrent infections. At birth, the medical assessment was normal apart from bilateral testis ectopia and hypospadias. By the age of nine months, he presented several respiratory infections associated with wheezing thereafter. Immunity investigations were normal and skin tests were positive for dog hair. By allergen eviction and asthma therapeutics, the infant improved. During his follow-up, development retardation has been noted in addition to facial dysmorphism and limb extremities aberrations. Imaging investigations showed the agenesis of both the corpus callosum and the right kidney. Karyotyping on peripheral leucocytes and fibroblast culture revealed T8M in 6% and 87% of examined cells respectively. <strong>Conclusion:</strong> In the present case, the patient’s complaint is related to allergy. However, a global assessment of the child led to a rare condition requiring more care and careful follow-up.展开更多
文摘An eleven-year-old clinically dysmorphic and devel-opmentally retarded male child presenting with com-plaints of 5 episodes of recurrent cholestatic jaundice since 3 years of age was evaluated. Imaging revealed features consistent with congenital extrahepatic porto-caval shunt(Abernethy type 1b), multiple regenerative liver nodules and intrahepatic biliary radical dilatation. The presence of ductal paucity and trisomy 8 were con-firmed on liver biopsy and karyotyping. The explanation for unusual and previously unreported features in the present case has been proposed.
文摘<strong>Introduction</strong><strong>:</strong> Warkany syndrome, also called trisomy 8 mosaicism (T8M), is a rare genetic abnormality characterized by a large phenotypic variability. This heterogeneity leads to delayed diagnosis in the majority of cases. Frequently, development retardation is the first apparent anomaly that imposes genetic study, and hence diagnosis is done. In other situations, the revealing presentation is atypical. <strong>Aims:</strong> Report a case of T8M in a child followed up for recurrent respiratory infections and insists on the global assessment of patients. <strong>Case Description:</strong> The patient, aged six years old, has been followed up since his first year for recurrent infections. At birth, the medical assessment was normal apart from bilateral testis ectopia and hypospadias. By the age of nine months, he presented several respiratory infections associated with wheezing thereafter. Immunity investigations were normal and skin tests were positive for dog hair. By allergen eviction and asthma therapeutics, the infant improved. During his follow-up, development retardation has been noted in addition to facial dysmorphism and limb extremities aberrations. Imaging investigations showed the agenesis of both the corpus callosum and the right kidney. Karyotyping on peripheral leucocytes and fibroblast culture revealed T8M in 6% and 87% of examined cells respectively. <strong>Conclusion:</strong> In the present case, the patient’s complaint is related to allergy. However, a global assessment of the child led to a rare condition requiring more care and careful follow-up.
