ABSTRACT
Gaucher disease is a lipid storage disease characterized by the deposition of glucocerbroside in cells of the Reticulo Endothelial cells [RET] system, which encoded by a gene located on chromosome 1q21-q31.Gaucher disease occurs 1/50000 to1/100000 people in the general population. There are three clinical subtypes delineated by the absence or presence and progression of neurologic manifestation. All 3 types of Gaucher disease are inherited as autosomal recessive traits. A13-month -old- female infant was born from relative parents referred to the 17-shahrivar hospital with tachypnea, Respiratory distress, and abdominal distension. In the physical examination, the patient was pale, ronchi on both lungs were heard. Respiratory distress and substernal retraction, abdominal distension due to hepatosplenomegaly, fine parallel lines in different sizes on the abdomen due to phlebotomy observed. Laboratory findings, pancytopenia reported and Bone Marrow Aspiration [BMA] Gaucher cells have been observed and abdominal sonography has been reported huge hepatosplenomegaly. For definitive diagnosis, [3 glucosidase activity was measured and Hydrolase acid [3 glucosidase activity deficiency was improved. The patient was treated by intravenous acid p glucosidase every other week. Conclusions: Genetic counseling is recommended for prospective parents with a family history of Gaucher disease
ABSTRACT
Spinal Muscular Atrophy [SMA] consists of three types of disease including Werdnig Hoffman [SMA type1] which is an autosomal recessive degenerative motor neuron disease. These patients have abnormally in motor function of the muscles and will die in the first few years of life. The genetic locuses of all three types of SMA are on the chromosome numbers and a deletion in locus 5q11 -q13 will result in a variety of this disease. Case Report: heterozygous twin infants [boy and girl] were born from relative parents admitted to the hospital, one in three days after another, with upper respiratory tract infection, respiratory distress and coughing. They were hypotonic and had tongue fasciculation. They were intubated and ventilated in the PICU. SMA was suspected because of the general muscular weakness; therefore, biopsy and neurophysiologic studies were performed. Quadriceps muscle biopsy showed fascicular atrophy of muscle fibers and in genetic analysis of SMN1 gene in twin homozygous deletion of SMN1 gene at exon 7 was found. They became ventilator dependent and suffered respiratory failure and two weeks after their admissions in hospital, and with three day interval, died. It seems prudent to perform genetic assessments before having children in the parents who are close relatives especially after one affected child