|Year : 1960 | Volume
| Issue : 3 | Page : 64-68
A case of pseudohypertrophic muscular dystrophy with bilateral subcapsular cataract associated with some features of myotonia atrophica
D Bhattacharyya, DC Roy, J Bose
Department of Medicine and Ophthalmology, R.G. Kar Medical College Hospitals, Kolkata, India
|Date of Web Publication||5-May-2008|
Department of Medicine and Ophthalmology, R.G. Kar Medical College Hospitals, Kolkata
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Bhattacharyya D, Roy D C, Bose J. A case of pseudohypertrophic muscular dystrophy with bilateral subcapsular cataract associated with some features of myotonia atrophica. Indian J Ophthalmol 1960;8:64-8
|How to cite this URL:|
Bhattacharyya D, Roy D C, Bose J. A case of pseudohypertrophic muscular dystrophy with bilateral subcapsular cataract associated with some features of myotonia atrophica. Indian J Ophthalmol [serial online] 1960 [cited 2019 Dec 7];8:64-8. Available from: http://www.ijo.in/text.asp?1960/8/3/64/40680
Muscular dystrophy or myopathies include a number of conditions in which voluntary muscles undergo primary degeneration. A number of clinical types have been described according to the (a) age of onset (Danowsky 1960), (b) affected group of muscles, (c) presence or absence of pseudo-hypertrophy and (d) pattern of hereditary transmission.
The main functional biotypes are amyotonic and myotonic. The first type shows loss of tone in the affected muscles and muscle fibers are seen to be enlarged, vacuolated, fragmented and with fat, deposited in varying amounts. In the second type, the tone of the affected muscles is increased and progressive atrophy of the muscles due to their replacement by fibrous tissue are seen.
In the first group, the pseudo-hypertrophic type, is usually sporadic but may be recessive (always on the mother's side) ; several children,-are affected in a generation. Boys arc five times affected than girls. The healthy male siblings never transmit, whereas females do. The disease starts within the fifth year. Weakness of the pelvic girdle muscles is first noticed. The child learns to walk late, falls very easily and rises again with difficulty. Enlargement of the calf-muscles are obvious at the fifth year. Distribution of the paralysis gives rise to certain characteristic defects of gait and attitude, e.g., waddling gait and a peculiar lordotic stance. No association of cataract is found in the literature available to us.
In the second type, heredity often plays a part. The sterno-mastoids are affected first and then other muscles like the muscles of the forearm and palm, follow suit. However, any sort of distribution is possible. -(Otto Mass 1937). Simultaneous wasting (i.e. amyctrophy) and myotonia, usually in the third decade of life, (extremes 6-66 years) is a characteristic feature. Usually myotonia precedes atrophy and as the latter progresses myotonia disappears. Absence of myotonia is sometimes reported (Fearnside quoted by Kinnier Wilson). Baldness and testica.lar atrophy are other associations. One of the most characteristic feature is a subcapsular cataract.
Though clinical pictures of each type of mvopathy are characteristic, combinations of various types with overlapping of clinical features may he seen (Detcage 1890).
Below a case of typical pseudo-hypertrophic muscular dystrophy with bilateral subcapsular cataract is presented which shows a few characteristics of myotonia atrophica.
| Case Report|| |
S. K. Hindu, boy, aged 2, from a village of Midnapore, (West Bengal) came to the ophthalmic outdoor, R. G. Kar Medical College and Hospitals on 24-6-1957 with complaints (a) gradual dimness of vision for the last three years (b) difficulty in standing up from a lying-down-posture and difficulty in walking for the same period.
Past history: The patient learned to walk at a late stage and could not take part in playing, jumping, etc. Difficulty in walking has been increasing more for the last three years after an attack of typhoid, which seems to have aggravated the walking difficulties.
Family history: His father is dead. His mother is the only child of her parents. The patient is also the only child of his mother. None in his family has been affected with this type of disease.
General condition: He was a shy village boy with a peculiar waddling gait and hypertrophied calf muscles and a peculiar standing posture (lordotic). His speech was of `baby speech' type (nasal intonation). Decubitus in bed showed a peculiar curve of the spine. The general state of nutrition and development was fair. He had rather a vacant look on him. His temperature, pulse and respiration were normal.
He was very amiable and was liked by all around due to his soft childish speech and good behaviour. He was having difficulty getting in and out of bed and had to be helped. He was quite intelligent and loved to go out. He soon became very friendly and cooperative so that the second operation of curette evacuation could be performed under local anaesthesia.
Pupil reactions were brisk in both the eyes, the right pupil looking whitish. The right eye vision was finger counting at 25 cm. A circular globular cataract was seen with faint equatorial semi elliptical prolongations projecting in the anterior cortex at 8 O'clock, 5 O'clock and at 12-30 positions. The right disc was pink. Thinning of the pigment epithelium showed chorodial vessels some of which were sclerosed. The left eye vision was counting finger at 1½ meters. Central cataract was seen with anterior prolongations, similar to those in the right eye, at 12-30, 8 O'clock, 6 O'clock and 3 O'clock. [Figure - 1],[Figure - 2].
The spokes were much fainter than in the right eye. The opacity simulated lamellar cataract. The optic disc was normal, and the fundus periphery showed thinning of pigment epithelium presenting a tigroid.
Slit Lamp Examination: Right Eye -The broad spokes or rider like prolongation from the central circular globular cataract to the periphery were in the anterior cortex. The epithelial and sub-epithelial region was transparent, but deep to that there was an irregular wavy thin zone of cortex just underneath the anterior epithelium which had the appearance of a screen of dust like and punctate flakes of opacities with iridescence. The posterior cortex could not be focussed. In the left eye the spokes or rider like prolongations were much thinner and the positions were confirmed. The centre of the epithelium had a golden yellow pinhead like opacity, the exact significance of which was not clear. [Figure - 1] .
Cranial nerves were normal, slight weakness of the facial muscles and muscles of mastication were seen. Motor power was seen to be diminished in upper and lower limbs as also in flexors and extensors of the knee and ankle though there was hypertrophy of the gluteal and calf muscles. Sternomastoids showed definite weakness and atrophy. Inconstant spasticity of the lower limbs was encountered. All deep jerks were markedly diminished and plantar reflexes were flexor. No sensory disturbance was seen. When asked to get up from lyingdown-position he showed typical climbing gait (Gower's sign) and when he was asked to walk, a typical waddling gait was seen. His hand grip did not show typical myotonic character. Typical slipping through the axilla was observed because of the wasting muscles of the shoulder girdle.
Testes on the right side was incompletely descended.
Investigations:- All the muscles reacted to Faradic current except Tibialis Anterior which showed contraction to Galvanic current and there was no myotonic reaction.
Creatinine content of blood was 2 mg% while one hour after taking one Gm. of Creatinine, it went upto 4 mg%. Creatinuria was investigated for five days with a non-protein diet. On the third day he was given orally one gm. of creatinine. It was seen that creatinine content of urine was lower than normal but with a high creatinuria. [Table - 1], [Figure - 3].
Treatment and Progress: After admission, the patient was given a high protein diet. An operation of discission under general anaesthesia was done in the right eye on 26-7-1957 and curette evacuation on the same eye under local anaesthesia was done on 3-7-1957. With an uneventful postoperative period he recovered and the vision improved to 6/6o with + 12 D sphere and j 5 with + 16 D by 23-9-1957.
The left eye could not be operated as he had an attack of Influenza on 6-8-1957 followed by an attack of bronchopneumonia on 26-8-1957.
During this period he was having physiotherapy which improved his walking to a certain extent. The patient went away to his home on 30-9-1957, but has not reported since.
| Discussion|| |
In favour of pseudo-hypertrophic muscular dystrophy are the absence of dominant type of hereditary history, age of onset, typical hypertrophy or pseudo-hypertrophy of the calf muscles and deltoid, typical climbing tip gait from lying-down-posture and slipping through the axilla waddling gait, lordosis and wide base stance, typical style of walking in putting the sole of the foot first on the ground with each step and lastly, absence of myotonic reaction with Faradic current. Against it are association of subcortical cataract, weakness of the sternomastoid and .light weakness of the facial muscles and buccinator.
In favour of the diagnosis of myotonia atrophica are generalised weakness, wasting of all the muscles except calf and deltoid, bilateral cataract while against it arc age of onset, typical features of pseudo-hypertrophy in calf, deltoid and gluteal muscles, typical stance and gait, climbing style while getting out of bed absence of myotonia clinically and of myotonic reaction with Faradic currents.
It is apparent that though the mass of clinical evidence is supporting the diagnosis of pseudo-hypertrophic muscular dystrophy one cannot ignore the association of bilateral cataract which is a rare phenomenon in such cases. It is debatable whether one is justified to assume that the above two clinical entities are absolutely distinct and not subject to over-lapping. This has been noted by several observers like Delege (1890).
It is to be hoped that the interpretation of this anomaly might be elucidated by future observers. Polyphany of a single gene or linkage of two genes in the non-homologus part of the X-chromosome give rise to this type of combined biotypes is only a conjecture on our part, because of lack of any genetical data.
Acknowledgement : We are grateful to Dr. C. C. Saha and Dr. S. N. Chaudhuri, Department of Medicine, for their valuable co-operation. Prof. T. K. Ghosh and Dr. Sujit Mitra both of the Neurology Dept. helped in the neurological aspects of the case and creatinine excretion tests. _Miss E. Robertson did the physiotherapy anti the test for the, reaction of degeneration of the muscles.
Mr. Atul Bose the medical artist has drawn the diagrams.
| References|| |
Brain, Russel-Diseases of Nervous vstem, 501 Edition, Oxford Medical Press.
Danowsky, T.S.-"Muscular Dystrophy" P.42 , Therapeutic notes Park Davis & Co. No. 2,1959.
Deleage (1890) Etude Cliniquc Stir la Maladie de Thornson. These de Paris.
Kinnior Wilson, S. A. - Text book of Neurology, Vol. 2, p. 1035 (E Arnold & Co, 1940).
Mass, O. (1937) Brain 60 ,
Price, F. W. - Text Book of Medicine eighth edition Oxford Medical Press.
[Figure - 1], [Figure - 2], [Figure - 3]
[Table - 1]