1/93. albinism and agenesis of the corpus callosum with profound developmental delay: Vici syndrome, evidence for autosomal recessive inheritance. We report on two sibs and two other unrelated patients with agenesis of corpus callosum, oculocutaneous albinism, repeated infections, and cardiomyopathy. All manifested postnatal growth retardation, microcephaly, and profound developmental delay. Additional central nervous system anomalies present in at least one patient included hypoplasia of the cerebellar vermis, white matter neuronal heterotopia, or bilateral schizencephaly. Repeated viral, bacterial, and fungal infections were consistent with a primary immunodeficiency. However, immunological studies showed variable, nonspecific findings. Cardiomyopathy with progressive heart failure or infection led to death before age 2 years in three of the patients. This syndrome was first described by Vici et al. [1988: Am. J. Med. Genet. 29:1-8]. The four patients reported herein confirm this unique disorder. Affected sibs of both sexes born to unaffected parents provide evidence for autosomal recessive inheritance. ( info) |
2/93. Visual evoked potential evidence of albino-like chiasmal misrouting in a patient with angelman syndrome with no ocular features of albinism. An 8-month-old boy with global developmental delay, including visual and hearing inattention, was examined in the ophthalmic clinic. Monocular flash visual evoked potentials demonstrated a crossed asymmetry in scalp distribution, a feature considered to be pathognomic of albinism. Remarkably a foveal reflex was noted in each eye and this patient did not have nystagmus, iris transillumination, nor conspicuously pale fundi. The optic discs appeared normal. He was noted to have very fair skin and hair, with a small head and flat occiput. Cytogenetic studies demonstrated a microdeletion of the maternal chromosome 15q11-q13, and he was diagnosed with angelman syndrome. ( info) |
3/93. X mapping in man: evidence against direct measurable linkage between ocular albinism and deutan colour blindness. A Newfoundland kindred in which ocular albinism and deutan colour blindness are segregating provides strong evidence against the loci for these two X-borne characters being within direct measurable distance of each other. ( info) |
| Chediak Higashi anomaly is a very rare disorder in which patients suffer frequent and severe pyogenic infections that are secondary to abnormal functions of polymorphonuclear leukocytes, associated with albinism and bleeding tendency. Blume RS and Wolff SM (1972) reported that only 59 cases were diagnosed after the first description of chediak-higashi syndrome in 1943 by Cesar AB (cited by Wintrobe MM Clinical Haematology). As per recent literature available (internet) last case was reported on 16th July, 1997. ( info) |
5/93. Cutaneous malignancy in albinism. albinism is a disorder of hypopigmentation affecting the skin, appendages, and eyes. Ultraviolet light-induced cutaneous tumors are common in patients with albinism due to reduced or absent protection from melanin. Squamous cell carcinoma (SCC) is the number one skin tumor seen in patients who are albinos. Although nonmelanomatous skin cancers are more common in patients with albinism, dysplastic nevus and melanoma present a greater diagnostic challenge in this group because of their hypopigmented appearance. We report 2 cases of cutaneous malignancies in patients who had oculocutaneous albinism (OCA). The first case involves a 45-year-old man with OCA type 2 (OCA2) who developed a large SCC of the neck. The second case involves a 24-year-old man with Hermansky-Pudiak syndrome (HPS) who developed amelanotic melanoma. In both cases, hypopigmentation of the lesions contributed to a delay in diagnosis. We review the clinical, diagnostic, and therapeutic concerns for patients with albinism who have cutaneous malignancies. ( info) |
6/93. Griscelli syndrome: rare neonatal syndrome of recurrent hemophagocytosis. Griscelli syndrome (GS) is a rare inherited disease characterized by immunodeficiency and partial albinism. The microscopic findings of the skin and hair are highly suggestive of the disease. The GS locus colocalizes on chromosome 15q21 with the myosin-Va gene (MYO5a), and mutations have been identified in few patients. We describe a 2-month-old Hispanic girl with severe pancytopenia secondary to hemophagocytosis. Even though a mutation at the Griscelli locus had not been identified, her clinical features and outcome were typical of GS. The purpose of this article is to alert physicians to the association between GS and hemophagocytosis. We suggest that GS should be considered in infants with hemophagocytosis because the features of partial albinism can be subtle. The relevant literature is summarized. ( info) |
7/93. ABCD syndrome is caused by a homozygous mutation in the EDNRB gene. ABCD syndrome is an autosomal recessive syndrome characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut (hirschsprung disease [HSCR]), and deafness. This phenotype clearly overlaps with the features of the Shah-waardenburg syndrome, comprising sensorineural deafness; hypopigmentation of skin, hair, and irides; and HSCR. Therefore, we screened dna of the index patient of the ABCD syndrome family for mutations in the endothelin B receptor (EDNRB) gene, a gene known to be involved in Shah-waardenburg syndrome. A homozygous nonsense mutation in exon 3 (R201X) of the EDNRB gene was found. We therefore suggest that ABCD syndrome is not a separate entity, but an expression of Shah-waardenburg syndrome. ( info) |
8/93. Sister and brother with Vici syndrome: agenesis of the corpus callosum, albinism, and recurrent infections. A sister and brother with Vici syndrome are described. They both had oculocutaneous albinism, agenesis of the corpus callosum, cataracts, and cardiomyopathy. They were born to healthy unrelated parents, and had postnatal growth retardation, profound developmental delay, hypotonia, and cataracts. The sister had recurrent infections, and died of progressive heart failure at age 19 months. The brother is alive at age six months with mild cardiomyopathy, and had a single episode of acute bronchitis at age three months. review of the clinical manifestations of the sibs we described and six children reported in the literature indicates that Vici syndrome is a distinct clinical entity. Its main clinical manifestations include growth retardation, profound developmental delay, hypotonia, albinism, agenesis of the corpus callosum, cataracts, cardiomyopathy, and recurrent infections. The occurrence of the syndrome in three pairs of sibs of both sexes born to unaffected parents supports autosomal recessive inheritance. ( info) |
9/93. neuroimaging abnormalities in Griscelli's disease. Griscelli's disease is a rare autosomal recessive immunodeficiency syndrome. We report a 7-1/2-month-old white girl who presented with this syndrome, but initially without neurological abnormalities. Initial CT of the brain was normal. Despite haematological remission with chemotherapy, she developed neurological symptoms, progressing to coma. At this time, CT showed areas of coarse calcification in the globi pallidi, left parietal white matter and left brachium pontis. Hypodense areas were present in the genu and posterior limb of the internal capsule on the right side, as well as posterior aspects of both thalami, together with minimal generalised atrophy. MRI revealed areas of increased T2 signal and a focal area of abnormal enhancement in the subcortical white matter. Griscelli's disease should be added to the list of acquired neuroimaging abnormalities in infants. ( info) |
10/93. Oculocutaneous albinism: variable expressivity of nystagmus in a sibship. Traditionally, the diagnosis of ocular or oculocutaneous albinism (OCA) is based on a constellation of features including the presence of nystagmus associated with iris transillumination defects, hypopigmentation of the fundus, and hypoplasia of the fovea and optic nerve head. Nystagmus is the most frequent ocular sign for the ascertainment of albinism particularly in individuals who have lightly-pigmented parents. We report two siblings, a male and female, with minimal, if any, pigmentation of skin and hair, iris transillumination defects, blond fundi, and hypoplasia of the foveae and optic nerve heads who were discordant for nystagmus; the diagnosis of OCA was based on the clinical findings. These siblings presumably have the same genetic hypopigmentation defect and demonstrate that nystagmus is not a consistent finding in OCA and may not be an absolute criterion for diagnosis. ( info) |