Subject(s)
Lymphohistiocytosis, Hemophagocytic , Piebaldism , Primary Immunodeficiency Diseases , rab27 GTP-Binding Proteins/genetics , Adolescent , Autografts , Hematopoietic Stem Cell Transplantation , Humans , Lymphohistiocytosis, Hemophagocytic/diagnostic imaging , Lymphohistiocytosis, Hemophagocytic/genetics , Lymphohistiocytosis, Hemophagocytic/pathology , Lymphoma, Large B-Cell, Diffuse/diagnosis , Lymphoma, Large B-Cell, Diffuse/pathology , Lymphoma, Large B-Cell, Diffuse/therapy , Male , Piebaldism/diagnostic imaging , Piebaldism/genetics , Piebaldism/pathology , Primary Immunodeficiency Diseases/diagnostic imaging , Primary Immunodeficiency Diseases/genetics , Primary Immunodeficiency Diseases/pathologySubject(s)
Hearing Loss, Sensorineural/pathology , Piebaldism/pathology , Pigmentation Disorders/pathology , Diagnosis, Differential , Fatal Outcome , Fever/etiology , Hair/pathology , Hearing Loss, Sensorineural/diagnostic imaging , Hearing Loss, Sensorineural/therapy , Humans , Infant , Magnetic Resonance Imaging , Male , Piebaldism/diagnostic imaging , Piebaldism/therapy , Pigmentation Disorders/diagnostic imaging , Pigmentation Disorders/therapy , Seizures/etiology , Tomography, X-Ray ComputedSubject(s)
Hair/pathology , Immunologic Deficiency Syndromes/diagnosis , Immunologic Deficiency Syndromes/pathology , Lymphohistiocytosis, Hemophagocytic/diagnosis , Lymphohistiocytosis, Hemophagocytic/pathology , Piebaldism/diagnosis , Piebaldism/pathology , Child , Hematopoietic Stem Cell Transplantation , Humans , Immunologic Deficiency Syndromes/diagnostic imaging , Lymphohistiocytosis, Hemophagocytic/diagnostic imaging , Male , Microscopy , Piebaldism/diagnostic imaging , Pigmentation Disorders/pathology , Primary Immunodeficiency Diseases , Siblings , Transplantation, HomologousABSTRACT
Chromosome 4q deletion syndrome is a rare intellectual disability disorder caused by a variety of non-recurrent deletions of 4q. We describe the evolution of the phenotypic features of a female patient with a previously unreported deletion of 4q12-4q21.21 (hg 18; 54,711,575-79,601,919). By review reported individuals with interstitial deletions extending telomeric from 4q12 have syndromic intellectual disability with variable piebaldism. We expand the phenotype to include dolichocephaly, pectus excavatum, hip dysplasia, pes planus, myopia, lens opacities, and an absence of spoken language but not of communication through sign. The proposita also did not have piebaldism suggesting again that piebaldism arises from a mechanism more complex than simple haploinsufficiency of KIT. Comparing deletions among affected individuals localizes the critical interval within 4q12-4q13.1, although the absence of molecular boundaries for nearly all reported cases precludes precise delineation and genotype-phenotype correlation.
Subject(s)
Chromosome Deletion , Chromosomes, Human, Pair 4/genetics , Genetic Association Studies , Piebaldism/genetics , Proto-Oncogene Proteins c-kit/genetics , Child , Child, Preschool , Chromosome Breakage , Female , Haploinsufficiency , Humans , Infant , Infant, Newborn , Male , Phenotype , Piebaldism/diagnostic imaging , RadiographyABSTRACT
PURPOSE: To describe our experience in infants with partial albinism and immunodeficiency (PAID), a rare, recently recognized, probably autosomal recessive disorder. PATIENTS AND METHODS: Five infants suffering from this disease were examined with CT of the brain and four of these patients also underwent MR. Four of the five children also underwent follow-up CT or MR exams. RESULTS: Three of the patients followed with serial examinations demonstrated a rapid progress of white matter changes together with a loss of brain tissue over a few months. In all four patients subjected to follow-up, the posterior fossa white matter structures were severely involved during the course of the disease. CONCLUSIONS: This syndrome should be added to the list of demyelinating diseases, and should be kept in mind when white matter changes are prominent in the posterior fossa.