A boy born with multiple lesions of atrophoderma.

AIMS: The Atrophodermas include a large group of disorders appearing as localized or widespread depressed skin areas and characterized by underlying dermal atrophy. The present study aims to report a peculiar form of previously unreported focal dermal atrophy. METHODS: We studied over a period of 5 years a boy who manifested, since birth, multiple hypopigmented cutaneous atrophic lesions of the atrophoderma type in a mosaic distribution over the body and the legs. RESULTS: This boy did no develop other cutaneous or systemic stigmata except for an idiopathic thrombocytopenic purpura (ITP) manifested at age 2 years. Full serum, metabolic and infective analyses; full ophthalmological examination; ultrasound examination of the heart and internal organs; skeletal x-rays; brain magnetic resonance imaging; and DNA analysis of the PORCN (Focal Dermal Hypoplasia - FDH) gene in this boy yielded normal results. Pathological analysis of multiple skin specimens from an affected area revealed slightly reduced dermal thickness; hyperpigmentation of the basal layer; homogenized and disarrayed collagen bundles; perivascular chronic infiltrates of lymphocytes and histiocytes; and normal skin appendages. Currently, the child is healthy; he has mildly improved skin status with less-evident skin depression throughout the lesion areas and no further complication has been recorded. The histological and clinical appearance of the skin lesions and the course were against any known disorder in the group of the atrophodermas. CONCLUSIONS: The cutaneous lesions seen in this boy represent a possibly new congenital skin disorder characterized by multiple, benign areas of focal dermal atrophy in a mosaic distribution.

Recurrent obstructive hydrocephalus in a 4-month-old infant.

INTRODUCTION: Transient, recurrent or permanent causes of hydrocephalus in children are usually due to tumours, cerebral bleeding or colloid cysts and complications of infectious meningitis or secondary to poisoning. Recurrent, obstructive hydrocephalus is very rare. CASE REPORT: We report a 4-month-old boy who suffered at least three different episodes of obstructive hydrocephalus presumably caused by intermittent valvular blockage of the normal aqueduct cerebrospinal flow as indirectly demonstrated by serial standard and dynamic brain imaging studies. In addition, he had congenital left hydronephrosis secondary to congenital ureteropelvic junction stenosis. The child underwent an endoscopic third ventriculostomy with only transient post-surgical complications (i.e. central diabetes insipidus). DISCUSSION: The neurological symptoms rapidly improved after surgery, and the child is currently doing well with normal psychomotor development.

Two siblings with a homozygous MTHFR C677T (G80A-RFC1) mutation and stroke.

BACKGROUND: Stroke is a rare disorder in childhood; among its risk factors, C677T mutations in the methylenetetrahydrofolate reductase (MTHFR) gene with secondary hyperhomocysteinemia are considered. PATIENTS AND METHODS: We report on a family in which two brothers had arterial ischemic stroke (AIS). One of these siblings came to our observation at the age of 4 years because of decreased motility of the right arm, mild hypotrophy of the right limbs, and frequent falls: brain magnetic resonance imaging revealed a large left AIS. Family history revealed that his older brother had died at the age of 7 due to AIS. An extensive metabolic investigation revealed a homozygous C677T [G80A-reduced folate carrier 1 (RFC1)] mutation in the MTHFR gene in both the affected siblings and in their healthy older brother and heterozygous mutations in the parents. None of these family members presented hyperhomocysteinemia. CONCLUSIONS: To the best of our knowledge, this is the first family with multiple AIS patients harboring homozygous MTHFR gene C677T (G80A-RFC1) mutations without associated hyperhomocysteinemia (the latter factor is usually considered as effector of vascular damage in patients with MTHFR C677T mutations). The pathogenic hypotheses of stroke in this family are considered.