Bardet-biedl syndrome: A case report from Nepal

The Bardet–Biedl syndrome (BBS) is a rare ciliopathic autosomal-recessive disorder, with multiple organ systems involvement. It is usually seen in family with consanguinous marriage. It is characterized by truncal obesity, polydactyly, retinal dystrophy, mental retardation, renal dysfunction and hypogonadism in males. It affects both males and females. Very few cases are reported in Nepal. Here we report a 30 year obese lady who presented to our center with history of excessive weight gain and blindness with polydactyly. She visited many local medical centers before landing to our hospital.

Metachromatic Leukodystrophy (MLD): A Rare Genetic Disorder in child

Metachromatic leukodystrophy is a rare hereditary neurodegenerative disorder that causes fattysubstances to build up in cells, particularly in the brain, spinal cord and peripheral nerves. This iscaused by a deficiency of an enzyme that helps break down lipids called sulfatides. We present acase of a four-year-old boy born of non-consanguinous marriage with complaints of progressive lossof fully developed motor milestones as the inability to walk and sit (regression of achieved motormilestones). The patient was diagnosed with MLD based on whole xome sequencing and dischargedon symptomatic care and physiotherapy to improve the patient's quality of life.

Bardet Biedl Syndrome

This is a case report of Bardet-Biedl syndrome, diagnosed in a 8 year old girl presented with obesity. She had polydactyly, mild mental retardation, retinitis pigmentosa in both eyes, with hypoplastic uterus, fallopian tube and ovaries. She was born to a consanguinous marriage and had a family member with same features. DOI: http://dx.doi.org/10.3126/jnps.v33i2.7359 J Nepal Paediatr Soc. 2013; 33(2):129-131

The Heterogeneity of Congenital factor X deficiency

Two unrelated patients with congenital factor X deficiency are described. R.N. a four year old Pakistani child of consanguinous marriage presented with gastrointestinal haemorrhage. Routine tests of coagulation revealed a grossly prolonged prothrombin time and KCCT. All factor assays, other than factor X, were normal. Factor X, measured by three unrelated methods, was < 1%. Factor X related antigen (FXRAg) measured by antibody neutralisation was undetectable. In other, less affected members of the family FXC/FXRAg = 1 An infusion of factor X concentrate raised the factor X to 140%. The rate of decline was biphasic with an initial rapid component, T½ = 4 hours, and a slower second component T½ = 33 hours. The second patient, P.P. a Caucasian female presented with persistent post-dental extraction haemorrhage. Routine tests of coagulation revealed a prolonged prothrombin time and KCCT. All factor assays, other than factor X, were normal. Factor X, measured by two unrelated methods was 20 - 32% (normal 58 - 134%) FXRAg was 71% (normal 60 - 120%). FXC/FXRAg = 0.35. Similar ratios were obtained on three other affected members of the family. The ratio represents an important difference between the two families. Studies using the modified thrombotest strongly suggest an abnormal molecular complex in P.P. The results provide further evidence of the heterogenity of factor X deficiency states.

The Heterogeneity of Congenital factor X deficiency. A study of two unrelated patients

Two unrelated patients with congenital factor X deficiency are described. R.N. a four year old Pakistani child of consanguinous marriage presented with gastrointestinal haemorrhage. Routine tests of coagulation revealed a grossly prolonged prothrombin time and KCCT. All factor assays, other than factor X, were normal. Factor X, measured by three unrelated methods, was < 1%. Factor X related antigen (FXRAg) measured by antibody neutralisation was undetectable. In other, less affected members of the family FXC/FXRAg = 1 An infusion of factor X concentrate raised the factor X to 140%. The rate of decline was biphasic with an initial rapid component, T½ = 4 hours, and a slower second component T½ = 33 hours. The second patient, P.P. a Caucasian female presented with persistent post-dental extraction haemorrhage. Routine tests of coagulation revealed a prolonged prothrombin time and KCCT. All factor assays, other than factor X, were normal. Factor X, measured by two unrelated methods was 20 - 32% (normal 58- 134%) FXRAg was 71% (normal 60 - 120%). FXC/FXRAg = 0.35. Similar ratios were obtained on three other affected members of the family. The ratio represents an Important difference between the two families. Studies using the modified thrombotest strongly suggest an abnormal molecular complex in P.P. The results provide further evidence of the heterogenity of factor X deficiency states.

Two Cases of Familial Erythrocytosis With Increased Erythropoietin Activity in Plasma and Urine

Two brothers with familial erythrocytosis born to parents of a consanguinous marriage are described. Two other siblings were unaffected. There was a marked increase in erythropoietin concentration in both the plasma and urine, suggesting that a congenital defect led to erythropoietindependent polycythemia. Other causes of polycythemia were excluded.

Acanthrocytosis

1. Clinical and laboratory studies are reported on a 13½ year old boy, the offspring of a consanguinous marriage, who, after having been afflicted with a celiac syndrome in early childhood, developed a progressive ataxic neuropathy associated with a peculiar malformation of most of his circulating erythrocytes. Similar observations were previously described in the literature in two siblings also of consanguinous parents. The latter patients, however, had in addition, retinitis pigmentosa. 2. The erythrocytic anomaly consisted of an unusual type of "crenation"; the deformed red cells showed several, irregularly spaced, large and coarse projections on their surface which varied in width and length. Many of the cells resembled spherocytes with pseudopods. The term acanthrocyte (thorny red cell) is proposed for this particular type of misshapen erythrocyte. 3. The acanthrocytes exhibited a slightly decreased osmotic, a markedly increased lysolecithin and mechanical fragility, hut a normal heat and acid fragility. 4. The hemolytic index was within normal range, a finding which seems to preclude the existence of an exaggerated hemolytic process in vivo. 5. It is suggested that acanthrocytosis is genetically conditioned, and due to a mutant recessive allele for a gene which controls the normal architecture of the red cell. 6. Further observations are required to establish whether the association of acanthrocytosis, celiac disease in early childhood, and ataxic neuropathy with or without retinitis pigmentosa constitutes a new hereditary syndrome.