Leukocyte arylsulfatase A activity in patients with alcohol-related cirrhosis.

Arylsulfatase (ASA) enzyme deficiency is associated with metachromatic leukodystrophy (MLD), which is a hereditary myelin metabolic disease. It has been proposed that in alcoholic subjects with abnormal ASA, the accumulation of sulfatides may lead to demyelinization and generalized cerebral atrophy. ASA may be diminished in subjects with alcoholic cirrhosis having encephalopathic manifestations. This idea has not been previously proposed. Leukocyte arylsulfatase A (ASA) activity was measured in 30 healthy male volunteers and 28 patients with alcohol-related cirrhosis. The patients were divided into two groups: patients with alcohol-related cirrhosis with hepatic encephalopathy history and patients with alcoholic cirrhosis without history of hepatic encephalopathy. Alcoholic cirrhotic patients with history of encephalopathy showed 58.21% (40.95 nmol/mg protein/h) less enzymatic activity than a control group (98.00 nmol/mg protein/h), whereas the group without history of encephalopathy showed an ASA value which was 38.2% (60.55 nmol/mg protein/h) less than the control group. The results suggest that the low ASA activity is a factor associated to the appearance of encephalopathy in patients with alcohol-related cirrhosis.

Prenatal growth retardation, pelvic hypoplasia, and arthrogrypotic changes of lower limbs: a distinct autosomal-recessive disorder.

We report on 5 sibs (4 males, 1 female) with growth retardation, severe pelvic hypoplasia, arthrogrypotic changes and muscular hypotrophy of the lower limbs, and mild vertebral changes of prenatal onset. To our knowledge, this syndrome has not yet been reported. The family history suggests autosomal-recessive inheritance.

Autosomal dominant congenital epiphyseal dysplasia limited to the femoral heads.

A father and son with unusual congenital skeletal symptoms, mainly characterized by short stature and epiphyseal dysplasia limited to the femoral heads are described. The comparative analysis with other spondyloepiphyseal dysplasias supports the notion that the syndrome reported here is a distinct autosomal dominant connective tissue disorder.

Generalized osteoporosis in a patient with oculocutaneous hypopigmentation syndrome (OOCHS), without cerebral defects. A new syndrome?

An 8-year-old male patient presented a unique pattern of congenital anomalies. Prominent findings included a combination of severe osteoporosis and congenital oculocutaneous hypopigmentation. The patient may represent a hitherto undescribed syndrome of unknown etiology.

Autosomal dominant macroglossia: an addendum to the etiological classification.

There are multiple causes and classifications of macroglossia. We report a new observation of this entity in a mother and her daughter. Together with our previous report in two Mexican families with autosomal dominant transmission, we now expand the current classification with a new category: autosomal dominant macroglossia.

Autosomal dominant congenital macroglossia: further delineation of the syndrome.

We describe seven patients from two Mexican families with congenital macroglossia. Comparative analysis of these cases and the patients previously described in literature, allows to confirm the notion that this isolated primary macroglossia is a distinct dominant condition.

Aneuploidies, chromosome aberrations and dominant gene mutations detected in 113,913 consecutive newborn children in Mexico.

Data on 113,913 liveborn children from a hospital in Guadalajara, Jalisco (Mexico), were analysed for birth defects (BD); mutation rates were calculated for sporadic aneuploidy, chromosome aberrations and dominant gene mutations. The results showed a general incidence of 13.92 BD cases per 1000 liveborns, of which 1.64% were chromosomal abnormalities, 1.50% were aneuploid, 0.14% were structural chromosome aberrations and 3.23% were dominant gene mutations. The mutation rates were 8.20 x 10(-4) chromosomal abnormalities, 7.5 x 10(-4) aneuploidies, 7.0 x 10(-5) chromosome aberrations and 1.61 x 10(-3) dominant gene mutations/gamete/generation, respectively. The lethality rate was 15.32% of the liveborns with BD. The described findings estimate the incidence of new human mutants detected at birth in a sample of the Mexican population. They show that the rate for some aneuploidies are similar to those found in other populations previously reported in the literature but the rates of chromosome and dominant gene mutations were different.

Achalasia microcephaly syndrome in a patient with consanguineous parents: support for a.m. being a distinct autosomal recessive condition.

A 4 9/12-year-old boy with achalasia microcephaly syndrome (AMS), born to a consanguineous couple, is reported. Comparative analysis of this case and the patients previously described in a Mexican family supports the notion that the syndrome is a distinct autosomal recessive condition. It is interesting that the area of origin and ethnicity of both the present and the previously reported cases is northwest Mexico.

Autosomal dominant macroglossia in two unrelated families.

Two unrelated families, one with 15 and the other with 3 members affected with macroglossia as a sole trait, are described. It is concluded that this entity differs from previously reported syndromes presenting macroglossia and is inherited in an autosomal dominant fashion.

Ciliary and superciliary hypotrichosis. A distinct autosomal dominant trait.

A woman and her four children showed congenital sparse eyebrows, short, thin, misplaced and very scanty upper eyelashes and absent lower eyelashes. Erosion of the corneal epithelium was a common complication. This report confirms the condition as an autosomal dominant disorder.

Cortical blindness, growth and psychomotor retardation and postaxial polydactyly: a probably distinct autosomal recessive syndrome.

A 14-month-old female infant with a syndrome mainly consisting of cortical blindness, psychomotor retardation and postaxial polydactyly (type B in hands and type A in feet) was studied. Two deceased sibs were similarly affected. Differential diagnosis and the review of medical literature permit the individualization of a distinct syndrome with a probable autosomal recessive pattern of inheritance.