Subject(s)
Angiomatosis/diagnosis , Cranial Nerve Neoplasms/diagnosis , Facial Neoplasms/diagnosis , Sturge-Weber Syndrome/diagnosis , Trigeminal Nerve , Child , Cranial Nerve Neoplasms/congenital , Cranial Nerve Neoplasms/pathology , Cranial Nerve Neoplasms/therapy , Facial Neoplasms/congenital , Facial Neoplasms/pathology , Facial Neoplasms/therapy , Humans , Male , Sturge-Weber Syndrome/congenital , Sturge-Weber Syndrome/pathology , Sturge-Weber Syndrome/therapyABSTRACT
This report describes a case of cranio-facial angiomatosis with rapid growth of the angiomas leading indirectly to death at 3 mth of age. Extensive involvement of the cranial nerves, pituitary stalk, brain-stem meninges and liver and the presence of a Dandy-Walker malformation cyst have not been previously described in this condition.
Subject(s)
Angiomatosis/pathology , Facial Neoplasms/pathology , Sturge-Weber Syndrome/pathology , Dandy-Walker Syndrome/pathology , Facial Neoplasms/congenital , Female , Humans , Infant, Newborn , Sturge-Weber Syndrome/congenitalSubject(s)
Eye Diseases/congenital , Glaucoma/congenital , Anterior Eye Segment/abnormalities , Chromosome Aberrations , Chromosome Disorders , Connective Tissue Diseases/congenital , Ehlers-Danlos Syndrome/diagnosis , Eye Neoplasms/congenital , Female , Fetal Diseases/complications , Glaucoma/diagnosis , Glaucoma/genetics , Humans , Infant , Infections/complications , Marfan Syndrome/diagnosis , Metabolism, Inborn Errors/complications , Neurofibromatosis 1/congenital , Nevus, Pigmented/congenital , Pierre Robin Syndrome/diagnosis , Pregnancy , Sturge-Weber Syndrome/congenital , Syndrome , von Hippel-Lindau Disease/congenitalABSTRACT
Successful management of glaucoma to prevent blindness depends upon early recognition of the condition. This article details the early signs and symptoms of glaucoma so that prompt referral for care and treatment may be facilitated.
Subject(s)
Glaucoma/congenital , Abnormalities, Multiple , Child, Preschool , Ectopia Lentis/complications , Eye Injuries/complications , Eye Neoplasms/congenital , Female , Genetic Counseling , Glaucoma/genetics , Glaucoma/therapy , Gonioscopy , Humans , Hyphema/complications , Infant , Infant, Newborn , Iris/abnormalities , Male , Marfan Syndrome/complications , Metabolism, Inborn Errors/complications , Miotics/therapeutic use , Pedigree , Retinoblastoma/congenital , Risk , Sturge-Weber Syndrome/congenital , Tonometry, Ocular , Trabecular Meshwork/surgery , Uveitis/complicationsABSTRACT
The neonate in this report had severe encephalotrigeminal angiomatosis with intracranial calcification, cranial hemiatrophy, microcephaly and generalised severe cerebral atrophy. Such findings are not common in the newborn with this syndrome.