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Biomedical subjects

A H Mahdi

Publications and source records attributed to A H Mahdi.

At least 19 recordsLinked to original sources

Childhood neuromuscular disorders: a decade's experience in Saudi Arabia.

The study describes the pattern of childhood neuromuscular disorders seen in a decade (1982-1992) at King Khalid University Hospital, Riyadh, Saudi Arabia. Similar data are scanty outside Europe and North America, and lacking in Saudi Arabia. Eighty-four children (< or = 16 years) were assigned to an entity of neuromuscular disease following review of the clinical, biochemical and neurophysiological data, and after re-examination of the histological and histochemical features of the muscle biopsies. Of the 84 ascertained cases, 40 (48%) had different forms of muscular dystrophy (MD), 26 (31%) had one of the various types of spinal muscular atrophy (SMA) and two (2.4%) hereditary motor and sensory neuropathy type I. The rest were miscellaneous cases including one (1.2%) with dermatomyositis. Of the dystrophies, severe childhood autosomal recessive muscular dystrophy (SCARMD) was more prevalent (30%) than Duchenne type (25%), conforming with observations from North African countries known to have a high incidence of consanguineous marriages. Family history of other cases of SCARMD included three males and three females, one of whom died at 15 years, and consanguinity was evident in 63%. Congenital MD, inherited in an autosomal recessive pattern, was also common (30%). A history of consanguinity was present in 55%. Of the 26 cases of SMA, type I (Werdnig-Hoffman disease) was the most prevalent (69%). Consanguinity was ascertained in 65% of SMA families and histories revealed another 14 affected siblings. Autosomal recessive forms seem to constitute the bulk of neuromuscular disorders in Saudi Arabia.

Adolescent↗

Clinical and molecular pathological features of severe childhood autosomal recessive muscular dystrophy in Saudi Arabia.

The clinical, biochemical and histochemical features of 14 patients (nine females and five males) with severe childhood autosomal recessive muscular dystrophy (SCARMD) seen at a tertiary hospital in Riyadh from 1982 to 1993 are described. Onset was at 3 to 9 (median 3) years and four of five children aged > 12 years lost ambulation. Five of the eight pairs of parents were closely consanguineous. The mean creatine kinase was 20 times the upper normal limit. Histochemistry of muscle showed dystrophic features in all cases, and dystrophin was positive in all cases examined (N = 6). Three patients (two girls and a boy) were deficient in adhalin, the 50-kDa dystorphin-associated glycoprotein. A boy aged 13 years had rapidly progressing disease. Another boy of the same age (from a family characterized by early onset and slower progression) had normal dystrophin and adhalin. The clinical features conformed with previous observations from Sudan, North Africa and Qatar in the Arabian Peninsula. The disease is common in Saudi Arabia and seems to be more prevalent than Duchenne muscular dystrophy.

Adolescent↗

Growth hormone and IGF1 profile in short children with osteopetrosis.

Osteopetrosis is commonly associated with short stature. To identify the cause, 8 children with osteopetrosis and short stature were studied. One showed evidence of renal tubular acidosis, none showed evidence of anaemia, and all were clinically and biochemically euthyroid. Growth hormone profile was assessed using night sampling (8 patients), growth hormone provocative testing using insulin-induced hypoglycaemia (6 patients), and L-dopa-propranolol (8 patients). The mean nocturnal growth hormone values taken at 60 and 90 min after onset of sleep and at 4 a.m. were 5.5, 12.8, and 11.5 mu/L respectively. The peak stimulated growth hormone mean values with the insulin-induced hypoglycaemia (glucose 1.6-3.0 mmol/L, mean = 2.2) was 14 mu/L (range 7.3-24.5 mu/L) and with the L-dopa-propranolol was 25.6 mu/L (range 12.3-49 mu/L). IGF1 levels taken at 0 and 120 min of insulin-induced hypoglycaemia (0 min for L-dopa-propranolol), and at 120 min of L-dopa-propranolol, showed normal values for age. We conclude that: (1) growth hormone profiles in these children are normal; (2) tissue unresponsiveness to growth hormone and/or IGF1 is not likely to be the cause of short stature in children with osteopetrosis; and (3) osteopetrosis per se is not an indication for assessment of growth hormone status.

Adolescent↗

Subacute sclerosing panencephalitis in Riyadh, Saudi Arabia.

The clinical features and outcome of disease in 14 cases of subacute sclerosing panencephalitis (SSPE) diagnosed at the King Khalid University Hospital, Riyadh during an 8-year period are similar to those described elsewhere. Therapy was associated with arrest of deterioration for 2.5 years in one patient, and with survival after diagnosis for 2-7 years in four others. Many of the cases had initial misdiagnoses because of the frequently bizarre modes of presentation. It is thought that many more cases of SSPE occur in Saudi Arabia and also in many other tropical countries than are currently recognized. The establishment of national SSPE registries is advocated to improve early identification and management of cases.

Adolescent↗

Genetically determined neurodegenerative disorders: experiences in Saudi Arabia.

There is, to date, hardly any literature on genetic neurodegenerative disorders from developing countries. This paper reports a study of 98 Saudi children with genetic neurodegenerative disorders. The four most encountered diagnoses were: spinal muscular atrophy, storage (lysosomal) disorders, neurocutaneous syndromes and aminoacidopathies. Consanguinity has been noted in about 50% of the families. In view of the major advances made in recent years in the recognition and treatment of these disorders, the role of the physician is discussed.

Child↗

Wolman's disease in a Jordanian infant.

We report a case of Wolman's disease that is apparently the first to be reported in a Jordanian infant. The clue to diagnosis was the radiological evidence of bilateral adrenal calcifications and foam cells in bone marrow. The disease was confirmed by skin fibroblast culture which showed decreased 'acid esterase' activity.

Acetylesterase↗

Computerized tomography of brain in infantile spasms (West syndrome).

Computerized tomographic scanning of the brain was performed in 26 infants with Infantile spasms. Majority of the patients, 18 (69%) had some abnormality. Changes noted were cerebral atrophy in 12, calcifications in 5 and dysgenesis of the corpus callosum in 3 patients. One infant each had porencephaly, hydrocephalus and cavum septum pellucidum. Five patients had more than one abnormality simultaneously. Three infants had progressively worsening atrophy on ACTH therapy. Patients with infantile spasms, without any physical or neurological abnormality, are unlikely to have any abnormalities on brain CT scanning (p = less than 0.005).

Atrophy↗

Computed tomographic (CT) scans in cerebral palsy (CP).

The CT findings in 120 cerebral palsied children are analysed. The 72.5% positive findings are correlated with the clinical types, as well as the aetiological basis for the cerebral palsy. The spastic type, 83.3% of the total number of children, had the highest positive findings. The yield was increased in children with seizures (91.3%) and those in the postnatal group (90%), as well as those with birth trauma and neonatal asphyxia (94%). The findings were those of atrophy in 30.8%, hydrocephalus, in 10%, infarct in 11.6%, porencephaly in 8.3% and others. The atropic changes and their patterns are explained. Treatable lesions, such as tumour, hydrocephalus, subdural haematoma, porencephaly and hygroma were identified in 22.5% of cases. It is concluded that CT scan is definitely efficacious in the management of cerebral palsied children.

Asphyxia Neonatorum↗

Osteopetrosis in Saudi children: a report of 10 cases.

The case records of 10 children with osteopetrosis are reviewed. The mean age at presentation was 4 years. Parental consanguinity was noted in all the families. Growth retardation was the commonest presenting complaint. All the children had severe dental caries. Routine metabolic studies for calcium, phosphorus and alkaline phosphatase were unremarkable. The literature on the management of this entity is briefly discussed.

Child↗

The arrangement of the muscle at the ileo-caeco-rectal junction of the domestic duck (Anas platyrhynchos) and the presence of anatomical sphincters.

The arrangement of the muscle at the ileo-caeco-rectal junction of the domestic duck (Anas platyrhynchos) was studied using light microscopy, three-dimensional reconstruction models and scanning and transmission electron microscopy. The junction consists of a papilla-like protrusion of the ileum into the rectum, the 'ileal papilla', lateral to which are the openings of the large right and left caeca. The ileal papilla consists entirely of circular muscle which is not divided into an inner electron-dense portion and an outer electron-lucent portion as is the rest of the ileum. The longitudinal muscle layer does not enter the ileal papilla. The circular muscle at the junction forms three thickenings or sphincters which are continuous with one another: an ileal sphincter in the ileal papilla, and right and left caecal sphincters around the orifices of the caeca. The majority of nerve bundles are found in the circular muscle layer and consist of axons with small granular vesicles, axons with small agranular vesicles and axons with many large granular vesicles. The density of innervation, including the total number of axon profiles and the number of vesiculated axon profiles, is significantly higher in the circular muscle of the sphincters than in the ileum, caecum and rectum 5 mm from the junction.

Animals↗

Osteopetrosis: some unusual radiological features with a short review.

The radiological features of 27 cases of osteopetrosis were analysed retrospectively. The common features of generalized sclerosis of bones; with metaphyses showing characteristic widening, multiple transverse striations, cortical thickening and medullary calcifications as well as fractures, are seen in most cases. In addition to these changes, a number of rare features of osteopetrosis are seen, viz: medial and symmetrical metaphyseal cortical defects in the long bones (5 cases), excessive diaphyseal radiodense periosteal new bone formation (5 cases), bone-in-bone appearances (5 cases), and the presence of intracerebral and meningeal calcifications in 7 cases. The significance of these intracranial calcifications as a component of a particular autosomal recessive syndrome in which renal tubular acidosis and carbonic anhydrase II deficiency may co-exist, is discussed.

Bone and Bones↗

Arachnoid cysts: computed tomography findings.

Described are 26 cases of arachnoid cysts. Of these cysts, 54% were in the sylvian cistern, three (1.2%) were in the suprasellar cistern, and the rest were over the cerebral sulci. There were symptoms of seizures at presentation in 30.8%, and in 23% there were symptoms of hydrocephalus and compression of the brain. A total of 61.5% presented with mental retardation and/or cerebral palsy. Trauma and infection accounted for 35% of these cysts. Associated porencephaly were present in five cases. There was a male preponderance. Left-sided lesions accounted for 61.5% of the lesions. The radiologic appearances, especially of suprasellar cysts, and the differential diagnoses of these lesions are discussed. Their recognition and the role of surgery are stressed.

Adolescent↗

Computed tomography (CT) scan findings in children with seizures only.

One hundred and fifteen children with seizures only were studied with Computed Tomography (CT) scan at King Khalid University Hospital (KKUH), Riyadh, Saudi Arabia. Eighty percent of the children had normal CT scan; 8.7% showed cerebral atrophy and in only 11.3% was there a specific abnormality; such as infarction, porencephalic cysts, and arachnoid cysts. These specific type of abnormalities belong to partial and combined types of seizures and were treated medically. Fifty-seven cases of generalized type of seizures showed only 6 cases of abnormal CT scan and that is only brain atrophy. Based on these findings, we believe that CT scan should not be a part of the routine investigations of children with seizures only, especially those of generalized type.

Adolescent↗