|Year : 1978 | Volume
| Issue : 4 | Page : 38-40
The syndrome of juvenile diabetes mellitus, diabetes insipidus, deafness, optic atrophy and hypothalmic dysfunction (A case report)
Amod Gupta1, IS Jain1, DN Gangwar1, AK Malik2
1 Department of Ophthalmology, Postgraduate Institute of Medical Education and Research, Chandigarh, India
2 Department of Pathology, Postgraduate Institute of Medical Education and Research, Chandigarh, India
Department of Ophthalmology, Postgraduate Institute of Medical Education and Research, Chandigarh
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Gupta A, Jain I S, Gangwar D N, Malik A K. The syndrome of juvenile diabetes mellitus, diabetes insipidus, deafness, optic atrophy and hypothalmic dysfunction (A case report). Indian J Ophthalmol 1978;26:38-40
An association of juvenile diabetes mellitus and optic atrophy was first described in four siblings by Wolfram. One of the affected siblings was again reported by Cooper et al, by which time he had developed gynaecomastia, testicular atrophy and ataxia. Wagner reported that 2 of the affected children had become completely blind and had developed neurogenic bladder. In addition, 3 of the 4 siblings had developed subnormal hearing. Rose collected 39 reported cases of juvenile diabetes mellitus and optic atrophy occuring in 29 families and added 7 of his own from 6 families. In the last decade, more cases have been added to the literature bringing the total number of reported cases of juvenile diabetes mellitus and optictrophy to more than 112,,,.
To the best of our knowledge, no patient suffering from this syndrome has undergone an autopsy. We report a case who died in the course of his treatment at hospital and underwent a complete autopsy examination.
| Case Report|| |
KS 20 male was seen by the authors in March, 1977 with a history of polyuria and polydypsia since the age of 5 years. He was diagnosed as a case of juvenile diabetes mellitus at the age of 10 years and was put on Lente Insulin 10+20+40 units. Since he had no relief, plain Insulin 30+40+40 units was started, which he was still taking when first seen by us. During this period of 10 years, he twice suffered from attacks of hypoglycemia which were successfully averted.
For the last 5 years, he had noticed a gradual progressive diminution of vision from both eyes.
On examination [Figure - 1] he looked small for his age. His height was 131 cms. Skin was smooth. There were no pubic, axillary or facial hairs. External examination revealed a small phallus with phimosis. Testis were small and atrophic, about the size of 1 cm x 0.75 cm. There was minimal gynaecomastia.
Examination of cardiovascular and respiratory system was normal. Abdomen was protuberant but no mass could be palpated. Neurological examination was normal except the optic nerves.
Visual acuity was after each eye. In both eyes cornea showed a small central nebular opacity with dull corneal sensation. Pupils were dilated and obliquely oval. Pupillary reactions were very sluggish. Fundi revealed a bilateral primary atrophy, with minimal arterial narrowing. No foveal reflex could be seen. No pigmentary disturbances were seen in either eye. Visual fields were markedly contracted to 3° in right eye and 5° in the left eye.
Urine examination showed 4+sugar and a specific gravity varying from 1008 to 1012. Fasting blood sugar level was 266 mg%. X-ray optic foraminae was normal. Lateral view of X-ray skull showed a somewhat smaller sella turcica which was 6 mm deep and 8 mm anteroposteriorly.
Audiogram revealed a high tone sensory neural deafness in both ears.
Examination of parents and the only other sibling was found to be normal.
Patient collapsed in the early hours of 21.4.77 and could not be revived. Cause of death was considered to be hypoglycemic shock since postmortem urine examination did not reveal any sugar or ketone bodies. A complete autopsy examination was performed on the same day.
On gross examination, heart, liver, kidneys, spleen, adrenals, pancreas and bladder were found to be normal. There was mild pulmonary oedema. Brain weighed 1480 gms and showed mild tonsillar herniation. There was mild diffuse congestion in cerebral white matter. Moderate dilatation of the lateral ventricles was present [Figure - 2]. Optic chiasma was grossly normal.
Microscopic examination revealed mild pulmonary oedema and aspiration of vegetable matter. Liver showed nuclear vacuolation of hepatocytes. Testes examination revealed azoospermia with maturation arrest at spermatocyte level. In the pancreas, features of treated juvenile diabetes mellitus were seen in the form of islets hypertrophy and mild interlobular fibrosis. Multiple sections from various sites of brain including chiasma [Figure - 3],[Figure - 4] and hypothalamus did not reveal any light microscopic abnormality.
| Comments|| |
Review of the published cases reveals a complete picture of this syndrome consisting of juvenile diabetes mellitus, diabetes insipidus, sensory-neural deafness, optic atrophy, urinary tract abnormalities like hydronephrosis and neurogenic bladder. In addition sonic of the cases also had retinal pigmentary changes, ataxia, episodic seizures and hypothalmic dysfunctioning. So far only 25 cases of the full syndrome have been described,.
This patient had juvenile diabetes mellitus, a doubtful diabetes insipidus, optic atrophy and sensory neural deafness. Signs of hypothalmic dysfunctioning were present in the form of lack of body hair, testicular atrophy and minimal gynaecomastia. Association of hypothalmic dysfunctioning with this syndrome is rare and only 7 cases have been described so far.
All the components of this syndrome are variable except diabetes mellitus and optic atrophy. Discussing 46 published cases, Hyams et a1 found that all had diabetes mellitus, 45 had optic atrophy 21 had hearing loss and 6 had hypothalmic dysfunctioning. Diabetes insipidus is a highly variable component and may develop later. Thus in 7 cases discussed by Rose, none had diabetes insipidus. In fact, Ikkos et all have suggested that females afflicted with this syndrome were more susceptible than males to develop diabetes insipidus.
The cause of optic atrophy in this syndrome remains unclear. In the literature, there are only 2 reports, where craniotomy was performed and adhesive arachnoiditis was found in the region of optic chiasma. But in our patient the autopsy examination was completely normal save for moderately enlarged lateral ventricles.
Our finding of a normal hypothalmus also refutes the hypothetical suggestion of Hyams et al that a combination of diabetes mellitus and diabetes insipidus indicated a lesion in the region of the hypothalmamus. We are unable to explain the presence of normal optic nerve fibres in the region of chiasma, while both optic discs showed a gross degree of primary optic atrophy.
| Summary|| |
Complete autopsy report in a case of juvenile diabetes mellitus, diabetic insipidus, optic atrophy, deafness and hypothalamic dysfunction is presented for the first time in literature.
| References|| |
Cooper, I.S. 1950 Rynearson, F.H.; Bailey, A.A. and Mac Carty, C.S. Proc. Mayo Clin. 25, 30.
Damaske, M.M., Cohen, D.N., 1975, Gutman, F.A. and Schumacher, O.P. J. Ped. Ophth., 12,
Delawter, D.E., 1949 Med. Ann. D.C., 18,
Francois, J. 1976 Ophthalmological, 173,
Hyams, S.W., Adar, H. and Friedman, E., 1977, J Ped. Ophth., 14, 106.
Ikkos, D.G.; Fraser, G.R., Matsouki-Gavra, E and Petrochilos, M., 1970, Acta Endor, 65,
Kessel, S.; Rosman, N.P. 1977 Arch Neurology,
Marquardt, J.L. and Louriaux, D.L., 1974 Arch, Intern. Med. 134,
Moore, J.R., 1971 Proc. R. Soc. Med., 64,
Najjar, S.S. and Mahmud, J. 1968 J. Pediat.,
Pilley, S.F. J. and Thompson, H.S., 1976 Brit. J. Ophth., 60,
Rorsman, G. and Soderstrom, N., 1967 Acta Med. Second., 182,
Rose, F C.; Fraser, G.R.; Friedmann, A.S. and Kohner, E.M., 1966 Quart. J. Med., 35,
Stoppolini, G., Pierantoni, G and Pacilli, V., 1969 Lancet, 2,
Sunder, J.H., Danowski, T.S., Kenny, F.M., Khurana, R.C., Son, A., Nolam, S. and Stephen, T., 1972 J. Med. Genet 9,
Wagner, H.P. Quoted by Turnbridge, R.E. and Pilley, R.C., 1956 Diabetes, 5,
Wolfram, D.J. 1938 Proc. Mayo Clin., 13,
[Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4]