Cockayne Syndrome with ERCC8 Gene Mutation: A Case Report

Cockayne syndrome (CS) is a genetic disorder characterized by growth failure, microcephaly, cognitive delay, visual and hearing disorders. Patients usually present with dysmorphism and global delay. It is an autosomal recessive disorder, mutation of two genes ERCC8 and ERCC6 were observed. We report a 4 year old child who was diagnosed as a case of Cockayne syndrome, based on clinical, neuroimaging and genetic study findings. This case had growth failure, dysmorphism, optic atrophy, global developmental delay, intracerebral calcification and mutation of ERCC8 gene. Bangladesh J Child Health 2020; VOL 44 (3) :181-183

Pseudohypoparathyroidism: focus on cerebral and renal calcifications

Context Pseudohypoparathyroidism (PHP) is a group of disorders characterized by hypocalcemia, hyperphosphatemia and elevated PTH levels, as a result of end-organ resistance to PTH. Objective To describe a cohort of 26 patients with PHP, followed in a single tertiary center. Design Clinical, biochemical, radiological and genetic analysis of the GNAS gene were collected in 26 patients recruited since 2002. Results Ten patients harbored a GNAS mutation, 15 epigenetic abnormalities at the GNAS locus and one was negative. According to clinical, biochemical and genetic features, patients were classified as PHP1A, PHP1B and PPHP. Patients with PHP1A had an earlier diagnosis and more cases with family history, Albright hereditary osteodystrophy features (AHO), hormonal resistance and hypertension. Obesity was a common feature. No difference in biochemical values was present among PHP1A and PHP1B. Intracerebral calcification occurred in 72% of patients with no difference among PHP1A and PHP1B subgroups. No significant difference was observed between patients with and without intracerebral calcification for the time-weighted average values of total serum calcium, phosphate, calcium-phosphate product and PTH fold increase. A borderline association between cerebral calcification and age at the time of diagnosis (P =0.04) was found in the whole cohort of patients. No renal calcifications were found in the overall cohort. Conclusions Patients with PHP1A more frequently have AHO features as well as hypertension compared to PHP1B. PHP patients presented a high rate of intracerebral calcification with no significant difference between subgroups. No increased risk of renal calcifications was also found in the entire cohort.

Report of Another Mutation Proven Case of Carbonic Anhydrase II Deficiency

Carbonic anhydrase (CA) II deficiency results in an uncommon type of autosomal recessive sclerosing bone dysplasia with renal tubular acidosis and intracerebral calcification. We report a classic case of CA II-associated osteopetrosis with a previously reported homozygous frameshift mutation. Child was evaluated for short stature and failure to thrive. He was diagnosed as osteopetrosis in view of the presence of hepatosplenomegaly and increased bone density though hematological parameters were normal. Further evaluation showed presence of associated distal renal tubular acidosis raising a possibility of CA II deficiency. Mutation analysis revealed a previously reported homozygous frameshift mutation c.143-146delCTGT (p.Ser48Phefs*9) in CA2.Child has normal growth after initiation of alkali therapy.

099 A case of possible Fahr’s disease

IntroductionIdiopathic basal ganglia calcification (IBGC) or Fahr’s disease is an autosomal dominant, rare progressive neurological disorder, of unknown aetiology. It is characterised by abnormal deposition of calcium in the basal ganglia and other brain regions. We present the case of a woman with Fahr’s disease.Case63 year old woman presented with rapid cognitive decline on resuming work after a long holiday. Her co-morbidities included type 1 diabetes, Crohn’s disease and hypertension. She was slow at work, had difficulty concentrating, tired and forgetful in paying important bills. On initial clinical examination, she was fidgety without any choreiform movements or parkinsonian features. Addenbrooke’s cognitive assessment scored 90/100 but lost points in fluency and visuospatial. MRI brain showed bilateral symmetrical blooming artefacts suggestive of calcifications involving basal ganglia, thalami, cerebellar hemispheres and occipital cortices and also extensive white matter disease. CT brain confirmed intracerebral calcification involving the same areas in MRI. She had an ANA of 1280, dsDNA of 40, antiphospholipid Abs with b2GP1 IgG of 20 U/mL and a normal lumbar puncture. During follow-up, she had developed choreiform movements of her trunk and legs, bilateral dysdiadochokinesia, and bradykinesia on repetitive fine finger movements. Her Montreal cognitive assessment score was 24/30.ConclusionFahr’s disease is a very rare condition with unknown prevalence. Typical age of presentation is between the 4th – 6th decades but early onset is reported. Symptoms include Parkinsonism, chorea, dystonia, cognitive impairment, seizures, headache or ataxia. The familial form of IBGC is genetically heterogeneous and both sporadic and familial forms are not associated with disorders of calcium or parathyroid hormone metabolism. Our case illustrates the high index of clinical suspicion necessary to diagnose rare conditions such as Fahr’s disease.

Congenital toxoplasmosis associated with severe intracerebral calcification and West syndrome

Most children with congenital toxoplasmosis is an embryo foetopathy. It has been described all over congenital toxoplasmosis are developmentally normal1 but up to four percent die or have evidence of permanent neurological damage or bilateral visual impairment during the first years of age2,3 It is in this context that West syndrome can develop, and may be defined as a triad of menifestations infantile spasm and developmental delay and hypsrrythmic patern of EEG.4 Here this treatable and academic case, congenital toxoplasmosis & West syndrome was reported.Bangladesh Med J. 2014 Sep; 43 (3): 165-167