ABSTRACT
The aim of this study was to identify the relative frequency of Huntington's disease (HD) and HD-like (HDL) disorders HDL1, HDL2, spinocerebellar ataxia type 2 (SCA2), SCA17, dentatorubral-pallidoluysian degeneration (DRPLA), benign hereditary chorea, neuroferritinopathy and chorea-acanthocytosis (CHAC), in a series of Brazilian families. Patients were recruited in seven centers if they or their relatives presented at least chorea, besides other findings. Molecular studies of HTT, ATXN2, TBP, ATN1, JPH3, FTL, NKX2-1/TITF1 and VPS13A genes were performed. A total of 104 families were ascertained from 2001 to 2012: 71 families from South, 25 from Southeast and 8 from Northeast Brazil. There were 93 HD, 4 HDL2 and 1 SCA2 families. Eleven of 104 index cases did not have a family history: 10 with HD. Clinical characteristics were similar between HD and non-HD cases. In HD, the median expanded (CAG)n (range) was 44 (40-81) units; R(2) between expanded HTT and age-at-onset (AO) was 0.55 (p=0.0001, Pearson). HDL2 was found in Rio de Janeiro (2 of 9 families) and Rio Grande do Sul states (2 of 68 families). We detected HD in 89.4%, HDL2 in 3.8% and SCA2 in 1% of 104 Brazilian families. There were no cases of HDL1, SCA17, DRPLA, neuroferritinopathy, benign hereditary chorea or CHAC. Only six families (5.8%) remained without diagnosis.
Subject(s)
Chorea/genetics , Dementia/genetics , Heredodegenerative Disorders, Nervous System/genetics , Huntington Disease/genetics , Spinocerebellar Ataxias/genetics , Adult , Brazil , Chorea/diagnosis , Chorea/epidemiology , Chorea/pathology , Cognition Disorders/diagnosis , Cognition Disorders/epidemiology , Cognition Disorders/genetics , Cognition Disorders/pathology , Dementia/diagnosis , Dementia/epidemiology , Dementia/pathology , Female , Heredodegenerative Disorders, Nervous System/diagnosis , Heredodegenerative Disorders, Nervous System/epidemiology , Heredodegenerative Disorders, Nervous System/pathology , Humans , Huntington Disease/diagnosis , Huntington Disease/epidemiology , Huntington Disease/pathology , Male , Middle Aged , Phenotype , Spinocerebellar Ataxias/diagnosis , Spinocerebellar Ataxias/epidemiology , Spinocerebellar Ataxias/pathology , Trinucleotide Repeat Expansion/geneticsABSTRACT
We report a case of Klippel-Trenaunay-Weber syndrome presenting prenatally as a massive congenital lymphangiohemangioma of the thigh. Routine ultrasonographic examination revealed multiple distorted cystic areas extending from the right flank through the right lower extremity of a 30-week fetus. A diagnosis of cystic lymphangioma of the thigh was suspected prenatally. Neonatal evaluation confirmed the prenatal findings. Neonatal color Doppler imaging revealed blood vessels within the tumor. The differential diagnosis is discussed together with available therapeutic procedures.
Subject(s)
Hemangioma/diagnostic imaging , Klippel-Trenaunay-Weber Syndrome/diagnostic imaging , Lymphangioma/diagnostic imaging , Soft Tissue Neoplasms/diagnostic imaging , Ultrasonography, Prenatal , Adult , Diagnosis, Differential , Female , Hemangioma/congenital , Humans , Infant , Infant, Newborn , Klippel-Trenaunay-Weber Syndrome/congenital , Lymphangioma/congenital , Male , Pregnancy , Soft Tissue Neoplasms/congenital , ThighABSTRACT
We report a case of cutaneous hemangioma of the thigh detected by prenatal ultrasound. A hypoechoic homogeneous mass, filled with low-density echoes, was visualized on the posterior aspect of the right thigh, close to the genital region, at 36 weeks. Low-velocity arterial flow was detected within the mass by color and pulsed Doppler and the diagnosis of cutaneous hemangioma was suspected. No other anomalies were detected and the pregnancy evolved uneventfully to term. The prognosis and management of this condition are discussed.
Subject(s)
Fetal Diseases/diagnostic imaging , Hemangioma/diagnostic imaging , Skin Neoplasms/diagnostic imaging , Ultrasonography, Doppler , Ultrasonography, Prenatal , Adult , Female , Humans , Pregnancy , Pregnancy Trimester, Third , Ultrasonography, Doppler, Color , Ultrasonography, Doppler, PulsedABSTRACT
Proximal femoral focal deficiency is a rare skeletal disorder, with an estimated incidence of 0.11 to 0.2/10,000 births. The bilateral form is uncommon, occurring in 10 to 15% of cases. We report a case of bilateral proximal femoral focal deficiency diagnosed by ultrasound at 30 weeks' gestation. Differential diagnosis, prognosis and management are discussed.
Subject(s)
Bone Diseases, Developmental/diagnostic imaging , Femur/abnormalities , Ultrasonography, Prenatal , Adult , Diagnosis, Differential , Female , Femur/diagnostic imaging , Gestational Age , Humans , Infant, Newborn , Pregnancy , Prognosis , RadiographyABSTRACT
Three XX males, two XX true hermaphrodites, and an XY female were studied for possible deletions using probes for the recently characterised SRY gene and the pseudoautosomal boundary. The XX males and true hermaphrodites were negative for all three probes, while the XY female was positive. One XX male and one XX true hermaphrodite were sibs. A previous sib pair of an XX male and an XX true hermaphrodite have been shown to be positive for Y chromosomal material near the pseudoautosomal boundary. Thus, both phenotypes can be produced from different mutations, some involving the SRY gene and others not.
Subject(s)
Chromosome Deletion , DNA Probes , Disorders of Sex Development/genetics , Genes , Sex Chromosome Aberrations/genetics , Sex Determination Analysis , X Chromosome , Y Chromosome , Adolescent , Blotting, Southern , Child, Preschool , Chromosome Walking , Female , Humans , Male , Phenotype , Sex Differentiation/genetics , Testis/embryologyABSTRACT
The authors present the clinical and cytogenetic studies of a white malformed baby with dup (3p) secondary to the malsegregation of a maternal balanced (X;3) (p22.3;p21) translocation. Besides the typical clinical features he also presented polydactyly of both hands. X-replication findings of the mother's lymphocytes did not strictly follow the usual inactivation pattern of balanced X;A translocations.
Subject(s)
Abnormalities, Multiple/genetics , Chromosome Aberrations/genetics , Chromosomes, Human, Pair 3/ultrastructure , Intellectual Disability/genetics , Translocation, Genetic , Trisomy , X Chromosome/ultrastructure , Abnormalities, Multiple/pathology , Adult , Child, Preschool , Chromosome Aberrations/pathology , Chromosome Disorders , Cleft Lip/genetics , Cleft Palate/genetics , Female , Fingers/abnormalities , Humans , Infant, Newborn , MaleABSTRACT
A male with a ring 13 chromosome [r(13)(p11q34)], mild mental retardation, short stature, oligoasthenospermia, and few dysmorphisms is reported. His mother who had a poor reproductive history is carrier of a t(13q13q), featuring a dicentric NOR-negative element. The clinical significance of the r(13) and the mother's unusual karyotype are discussed.
