ABSTRACTS OF PAPERS AT THE 80TH RESEARCH MEETING OF THE MEDICAL RESEARCH CENTRE OF BOMBAY HOSPITAL ON MONDAY, 11TH SEPTEMBER 2000, 2.30 PM, SP JAIN CAFETERIA (CONVENOR DR. HL DHAR)
1. FAMILIAL TRUE HERMAPHRODITISM IN FIVE GENERATIONS
True hermaphroditism is uncommon form of intersex disorder in which, both ovarian and testicular tissues are present in one individual with varying phenotype. The kargotype may be 46xx, 46xy or mosaic. There are several reports in world literature describing true hermaphroditism in a family, commonly in siblings, rarely in 2 generations. All the described affected individuals had Karyotype of 46xx as their Karyotype. 12 individuals in all were found to be affected 4 of them had gonadal malignancy. Transmission has been through unaffected males of the family. The unaffected females have not had a single affected off-spring. The paper present details of 5 affected individuals. 2 of whom were children who underwent masculinizing genitoplasty successfully.
2. PRENATAL DIAGNOSIS OF MAROTEAUX - LAMY SYNDROME
Suvarna Bhingarde, Meena Desai, BN Apte
Mucopolysaccharidoses as a group has several clinical features in common, such as joint deformities, lumbar gibbus, growth retardation, corneal clouding, organomegaly and excretion of one or more types of mucopolysaccharides, depending on the type of syndrome. The corresponding enzyme activity measured in leucocytes is reduced or absent. The amount of enzyme activity determines the course of the disease, being severe in patients with absent enzyme to a milder course in patients with residual enzyme activity.
We present here a case of Maroteaux - Lamy Syndrome diagnosed prenatally in an unborn patient where the suspicion was raised on the basis of the bad obstetric history and the sonogram of the foetus. No proband was available to confirm the suspicion. The diagnosis was done by the electrophoretic analysis of the amniotic fluid for mucopolysaccharides and by the quantitative estimation of the enzyme activity.
3. SPONDYLO-METAPHYSEAL DYSPLASIA
Vaijana Save, Neeta Jaju, Prem Sheth
An 8 year old girl presented to us with chief complaints of deformity of the right leg since the last 2 years. The deformity was in form of lateral bowing of the leg which had increased gradually and on presentation. The child’s gait was abnormal. The parents also complained of failure of their child to gain weight and height. There was no history of any preceding trauma or involvement of the joints with joint swelling, stiffness and pain.
The child was a third born of a non-consanguineous marriage. On examination, the head circumference was 47 cm (< 5th percentile) with chest circumference of 53 cm. Her height was 104 cm (5th percentile) weight - 14 kg (< 5th percentile) US : LS ratio was 0.9 and a limb length discrepancy of 3 cm. The child had a mild scoliosis to the right with a compensatory pelvic belt. Chest did not reveal any deformity. The hands revealed mild deformity of the fingers. Local examination of the right limb revealed various deformity of the knee joint with medical protrusion of tibial condyle. No evidence of local wasting or tenderness or restriction of movement was seen. Dentition was normal. Eye examination and IQ testing revealed no abnormality.
Examination of the father revealed no skeletal deformity. Mother and other two siblings were not available for examination. X-rays of the right pelvis and knee joint and foot revealed metaphyseal changes in form of irregularities. Epiphyses were normal. X-ray of the spine revealed oxoid vertebral bodies with platyspondyly. Radiological diagnosis of spondylometaphysical dysplasia was made.
Spondylometaphyseal dysplasia was first described by Kozlowski in 1967 as a new dysplastic bone disease characterised by metaphyseal dysplasia associated with generalised platyspondyly in the vertebral column. Kozlowski had pointed out the autosomal dominant transmission of this disorder. But later Ikegawa S et al showed that the genetic aetiology of this disorder is unknown. They have shown a relationship of this disorder to type X collagen gene (COL10A1) which acts as an excellent candidate for missense mutarin. Seven types of SMD were described. So spondylo metaphyseal dysplasia is known as collagenopathy. Curravino G et al have described similar case where limb findings were unilateral. Treatment is palliative in form of corrective osteotonics with limb lengthening procedures. Alternative diagnosis of Blount’s disease was entertained from the clinical findings. But lack of obesity in this child with presence of the radiological findings goes against the diagnosis. Most of the spondylometaphyseal dysplasia would be spondyloepimetaphyseal dysplasia with prominent beaking of the epiphyses which is not seen in this patient. Also there is a considerable overlap with the metaphyseal diondrodysplasias like the Schnudt’s type and Jansen type wherein corner fractures are the prominent radiological findings.
4. ALEXANDER DISEASE - A CASE REPORT
Neeta Jaju, Vaijana Save, Prem Sheth
Baba Pratik, a 7 month old male child brought to us with the chief complaints of increasing head size and delayed milestones. This child was born at our Hospital at 35 weeks by caesarean section, indication being prematurity with oligohydramnios, in an elderly primimother. Apgar at birth was 9/10, Baby weighed 1.7 kg and was symmetrical 70GR. Baby was started on expressed breast milk and on breast feeds and then discharged uneventfully. This child was subsequently lost to follow up and presented to us at corrected age of 7 months. On examination, child’s weight was 4.75 kg (< 5th percentile), head circumference of 47 cm (> 90th percentile), chest circumference of 45 cm and length of 65 cm. Anterior fontanelle was 3 x 3 cm widely open with parietal bossing. There was no history of vomiting/convulsions. On developmental assessment, child had just started holding head, was able to partially roll over, had recently developed an ambidextrous approach. He had social smile and reached out for objects held in front of him. There was no evidence of any dysmorphic features.
On neurological assessment, there was mild head lag when made pull to sit with prominent bobbing movement of head. On axillary suspension, there was no telescoping but straightening of legs with intermittent scissoring. There was increased tone in both the lower limbs, with increased deep tendon reflexes. Tone in upper limbs was normal. Eye examination revealed normal fundus, but presence of refractive error for which correction was given. BERA done was normal. Developmental quotient revealed a developmental age of 4 months. In view of indefinitive diagnosis, child had to be investigated.
On investigations, serum calcium, serum phosphorus and serum alkaline phosphatase were within normal range. USG skull revealed no abnormality. Child was referred for physiotherapy for the same.
At 9 months, head circumference increased to 50 cm. (1.5 cm/month), CT Scan brain was performed which revealed extensive non-focal symmetrical white matter lucencies on CT which was confirmed by MR spectroscopy revealing white matter hyperintensities in bilateral frontal, parietal and occipital region suggestive of leucodystrophy with involvement of subcortical areas and U fibres with no predilection for any lobe. MR spectroscopy suggestive of decreased NAA levels and reversal of choline and creatine ratio in frontal region.
Leucodystrophy is affection of the white matter of the central nervous system. A progressive dental regression with motor abnormalities is the most frequent clinical concomitant.
In view of the CT scan films, Alexander’s disease and Canavani disease were considered, but Alexander’s disease predominantly affects the frontal region and Canavans disease involves the ‘V’ fibres more and involvement of thalamus and globus pallidus and the clinical course was not suggestive of either of them. Recent literature has revealed a new disease called ‘Vander Knapp’s disease, put forth in India by Dr. Singhal/Dr. V Udani as ‘Agarwals disease’ and MR spectroscopy findings are suggestive of decreased NAA peaks and reversal of choline and creatine ratio and add on increased urinary NAA levels would be suggestive to consider leucodystrophy.