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Biomedical subjects

S E Tangsrud

Publications and source records attributed to S E Tangsrud.

12 recordsLinked to original sources
PubMed1998

Severe craniofacial malformations and deglutition dysfunction in a brother and sister: new syndrome?

We report seemingly unique craniofacial malformations and deglutition dysfunction in a sib pair. The boy had right maxillomandibular alveolar synechae, ankylosis of right temporomandibular joint, hypoplasia of the zygomatico-maxillary region, nasal deviation to the left, choanal stenosis, and exophthalmos due to shallow orbita. His ears were apparently low-set with prominent lobules. He had severe gastroesophageal reflux and increasing respiratory problems and died at age 11 months. Psychomotor development was normal. His 10-year-old sister had similar craniofacial malformations and a cleft soft palate. She also had a severe deglutition dysfunction and developed a thoracolumbar kyphoscoliosis. Psychomotor development was normal. The parents were healthy and non-consanguineous. The malformations in the sibs do not fit any reported craniofacial malformation syndrome and may represent a previously unrecognized monogenic disorder. This may be an autosomal recessive or dominant trait with gonadal mosaicism in one of the parents.

Abnormalities, Multiple↗
PubMed1995

Congestive heart failure caused by vitamin D deficiency?

We describe a child, 3.5 months old, with severe vitamin D deficiency, profound hypocalcaemia, hyperphosphataemia, dilated left ventricle, severely reduced myocardial contractility and congestive heart failure. She also had depressed thyroid function with subnormal thyroxine and non-detectable serum thyrotropin (TSH) levels. The child promptly responded to calcium infusions, conventional anticongestive therapy and calcitriol. She is now 3 years old and received no medication. Myocardial function is normal but she has motor delay. We believe that her transitory congestive heart failure was caused by severe vitamin D deficiency with profound hypocalcaemia.

Calcitriol↗
PubMed1992

Prader-Willi syndrome in a brother and sister without cytogenetic or detectable molecular genetic abnormality at chromosome 15q11q13.

We report on a 12-year-old boy and his 7-year-old sister with the Prader-Willi syndrome. They both had severe initial hypotonia with feeding problems and later developed an increasing appetite. Both sibs have almond-shaped eyes, triangular mouth, hypogonadism, retarded growth, and mental retardation. An older brother suffered from severe hypotonia and died at 7 days of age. The children have normal chromosomes by high-resolution technique and have inherited the same chromosomes 15 short arm polymorphisms from their parents. The family was informative for one of four DNA markers specific for the 15q11q13 region. No deletion was found using this marker. The parents were healthy and unrelated. Autosomal recessive inheritance or a paternally inherited submicroscopic deletion are possible explanations for the sib occurrence in this family.

Adult↗
PubMed1992

Orofaciodigital syndrome type I in a girl with unilateral tibial pseudarthrosis.

The orofaciodigital syndromes are a group of possibly seven different malformation syndromes including oral, facial, and digital malformations. Type I has X linked dominant inheritance whereas the other types show autosomal recessive inheritance. An exact diagnosis is therefore important for genetic counselling. We here report a girl with orofaciodigital syndrome type I. She had cystic kidney disease at the age of 8 months which has not previously been reported in an infant with orofaciodigital syndrome. In addition she had unilateral tibial pseudarthrosis which has only rarely been reported in the orofaciodigital syndromes and in type II only.

Child, Preschool↗
PubMed1989

Child neuromuscular disease in southern Norway. The prevalence and incidence of Duchenne muscular dystrophy.

In a survey carried out to determine the incidence of Duchenne muscular dystrophy in South East Norway, 38 cases were ascertained among 149,975 live male births during the years 1968-1978. The overall incidence is 1:3,917 in live male births (25.33 x 10(-5). This incidence is compared with those in other studies. There is an apparent drop in incidence in the last cohort studied, and the possible role of genetic counselling and antenatal sexing are discussed.

Adolescent↗
PubMed1988

Child neuromuscular disease in southern Norway. Prevalence, age and distribution of diagnosis with special reference to "non-Duchenne muscular dystrophy".

The prevalence of child neuromuscular disease in Southern Norway by January 1st, 1983, was studied by collecting data from all available sources. All children born 1. 1. 1965 or later were included in the study. The total group consisted of 110 patients from 17 different diagnostic categories. Total prevalence on this group was found to be 24.9 X 10(5). Duchenne muscular dystrophy (DMD), with a prevalence of 10.89 X 10(5) constituted 29.2% of the total material. In the spinal muscle atrophy group (SMA), we found a significant increase in the number of boys affected, although an autosomal recessive mode of inheritance was found likely in all probands. Prevalence figures of child neuromuscular disease are hard to compare, as most studies deal with an adult population. The prevalences of common and well-known large categories of neuromuscular diseases in childhood are in agreement with previous studies. For less well known and mild diseases, our figures are low. This may be due in part to a later onset and in part to a health system not sensitive to parents' complaints.

Adolescent↗
PubMed1987

Congenital neuronal ceroid lipofuscinosis. A case report.

A case of congenital neuronal ceroid lipofuscinosis, a 9-day-old male child of Pakistani parents, is reported. Only 5 congenital cases have been described previously. The cerebral and cerebellar cortex showed extensive nerve-cell loss. Granular material with histochemical characteristics of ceroid-lipofuscin was deposited in neurons, macrophages and glial cells throughout the brain. Similar material was found in macrophages in the lymphoid system and in certain other organs. Ultrastructurally, the material was identical with that described in the infantile type of ceroid lipofuscinosis. It is pointed out that the metabolic exchange between the blood of the mother and the foetus is not sufficient to prevent the intra-uterine progression of the disease.

Brain↗
PubMed1982

Auditory brainstem responses (ABR) in high-risk neonates.

In the present study, auditory brainstem responses (ABR) were recorded in 60 high-risk neonates in the intensive care unit selected by the following criteria: Birth-weight less than 2000 g, hyperbilirubinemia requiring phototherapy or exchange transfusion, idiopathic respiratory distress syndrome, artificial ventilation, asphyxia, sepsis or meningitis, intracranial haemorrhage, neurological symptoms and potential ototoxic medication (aminoglycoides, furosemide). The infants tested ranged in gestational age from 27-44 weeks. The ABR testing was performed in a sound-proof room using the Madsen (ERA-74) equipment. Four infants did not reveal responses to 70 dB HL ("nonresponders"), and the total of 10 neonates (16.6%) had abnormal ABR-tests, when the physiological changes related to gestational age and conceptional age (gestational age plus the age after birth) were taken into account. The 10 neonates with abnormal tests were reexamined after discharge, and in six there were no improvement of threshold sensitivity. three of the "nonresponders" were retested several times within the two years after birth (one died at age 18 months of pertussis), and none of them revealed ABR at stimulus intensity of 70 dB HL. They all attend an audiological training program started at age of six months as a consequence of the early diagnosis of impaired auditory function. It is our opinion that a routine ABR-evaluation should be performed on high risk neonates (criteria mentioned above) in the newborn intensive care unit. Retesting of infants with abnormal responses within three months, and several times within the next two years if abnormal responses persist, is important. Transient impairment of auditory functions is not uncommon in these infants. However, the children with persisting hearing impairment should be discovered early to attend an early audiological training program.

Age Factors↗
PubMed1979

Scleroderma with massive regional lymphadenopathy.

Scleroderma in a two-year-old boy with gross enlargement of the right inguinal lymph nodes, as an early sign, is reported. Repeated lymph node biopsies revealed non-characteristic reactive changes and hyperplasia, but eventually histological examination of skin and muscle from the right leg were diagnostic. The effect of one year of D-penicillamine therapy is briefly mentioned.

Child, Preschool↗
PubMedDate not supplied

Craniopharyngioma in a boy with centronuclear (myotubular) myopathy: clinical and postmortem findings.

This report describes a case of centronuclear myopathy which was considered to represent an example of severe x-linked myotubular myopathy [van Wijngaarden et al. 1969]. The neonatal period was dramatic with weak movements and respiratory problems. This was followed by a gradual improvement of muscle strength but he continued to have severe respiratory problems. At the age of four he developed the symptoms of a craniopharyngioma, which was operated upon. He died from respiratory failure two months after the operation.

Child, Preschool↗