[Hurler syndrome: early diagnosis and treatment]. / Syndrome de Hurler : diagnostic et prise en charge précoces.

Hurler syndrome, the most severe form of mucopolysaccharidosis type I (MPS I), is a rare lysosomal storage disease. The overall incidence of MPS I is 0.99-1.99/100,000 live births. Accumulation of glycosaminoglycans causes the progressive dysfunction of multiple organs. We report the case of a 3-week-old newborn who was hospitalized in the Neonatal Intensive Care Unit for feeding problems. Coarse facial features and gingival hypertrophy, associated with axial hypotonia, upper airway obstruction, and moderate hepatomegaly, led to the early diagnosis of MPS I at 3 weeks of age and was confirmed by an abnormally elevated amount of dermatan and heparan sulphate in the urine and complete deficiency of alpha-L-iduronidase lysosomal enzyme activity. The child was homozygous for the p.W402X mutation, located on chromosome 4p16.3 of the alpha-L-iduronidase (IDUA) gene. The clinical condition gradually deteriorated until the age of 4 months, with thoracic and lumbar dysostoses, glaucoma, cerebral ventricular dilatation and cervical spinal stenosis, dilated cardiomyopathy, and umbilical hernia. Early diagnosis allowed enzyme replacement therapy (iaronidase, Aldurazyme(®), Genzyme) started at the age of 5 months, which provided stabilization of the heart disease, significant regression of rhinologic symptoms, and regression of hepatomegaly. Cord blood hematopoietic stem cell transplantation was performed at 11 months of age, allowing optimal preservation of cognitive development.

[Chorioangiomatosis: a rare etiology of nonimmune hydrops fetalis. Obstetric and pediatric implications for patient care]. / La chorioangiomatose : une cause rare d'anasarque foetoplacentaire non immune. Implications pratiques obstétrico-pédiatriques.

UNLABELLED: We report a case of chorioangiomatosis with hydrops fetalis as a complication. OBSERVATION: Hydrops fetalis associated with fetal distress led to preterm birth at 33 GW. Resuscitation was needed at birth. A systematic histologic exam showed diffuse chorioangiomatosis. There was no congenital hemangioma. COMMENTS: We describe the features of chorioangiomatosis, a rare cause of nonimmune hydrops fetalis. Prenatal diagnosis of chorioangiomatosis before early recognition of severe maternal and fetal complications during pregnancy is infrequent, thus precluding early management of the pregnancy. Reports of associated chorioangioma and infantile hemangioma are frequent, illustrated with a recent pathophysiological hypothesis involving embolism of a placental angioblast as for the cause of congenital hemangioma. Investigations for associated cutaneous or visceral infantile hemangioma should be undertaken when chorioangioma is diagnosed.