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Pathological Findings in Three Cases of Ataxia-Telangiectasia

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Pathological Findings in Three Cases of Ataxia-Telangiectasia J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.29.6.489 on 1 December 1966. Downloaded from J. Neurol. Neurosurg. Psychiat., 1966, 29, 489 Pathological findings in three cases of ataxia-telangiectasia SABINA J. STRICH From the Department ofNeuropathology, Institute ofPsychiatry, the Maudsley Hospital, London Ataxia-telangiectasia is afamilial cerebellar degenera- and sensation in the limbs were normal. Athetoid move- tion of childhood associated with telangiectases and ments of the hands were noted. The tendon reflexes varied frequent infections ofthe lungs and air sinuses. It was from day to day, but were present. By the age of 10 he was first described by Louis-Bar in 1941, but it has only unable to walk because of severe incoordination though become more widely known since Boder and Sedg- there was no loss of power of the limbs. His intellectual performance had deteriorated and he had developed a wick drew attention to the condition with its peculiar mask-like face and difficulty with conjugate deviation of and stereotyped symptoms in several papers (Boder the eyes. Athetoid movements and myoclonic jerks were and Sedgwick, 1958, 1963, and 1964). The clinical evident. The neurological signs fluctuated and were always features of some 100 cases have now been recorded more marked during episodes of infection. At the age of guest. Protected by copyright. but only about a dozen necropsies have beenreported. 13 telangiectasia of the bulbar conjunctivae (first diag- This paper presents the findings in three more nosed as conjunctivitis) was noted and later telangiectases necropsies, including some pathological features appeared on the ears, the centre ofthe face, and the shoul- which have not been described before. ders. He was very small for his age and there were no signs of puberty. Sensation and sphincter control were normal throughout. His skin and mouth were always dry. MATERIAL AND METHODS He became very wasted and weak and the tendon reflexes were absent on his last admission. He died from lung The brain, spinal cord, spinal ganglia, samples from peri- infection when he was 15. pheral nerves and muscles, and from other organs were Family history The patient's elder brother and sister fixed in 4% formaldehyde in 10% saline. Numerous are well. No other members of the family are affected. blocks were taken and embedded in paraffin wax. In Investigations The cerebrospinal fluid was normal on addition representative portions of the central nervous several occasions. At the age of 7 serum y-globulin was system from cases 2 and 3 were embedded in celloidin. 200 mg./100 ml. (normal). At the age of 11 serum y- Frozen sections from nervous tissue were stained for globulin was only 0-3 mg./100 ml. and he was treated with lipids with oil-red-O or Sudan black. Frozen sections of weekly injections of pooled y-globulin which seemed to muscle were stained for nerve fibres by the Schofield reduce the frequency of infections. The levels of plasma method (1960). Paraffin and celloidin sections were iron, copper, and ceruloplasmin were normal. stained with haematoxylin and eosin, haematoxylin and Necropsy findings The body was small and wasted. van Gieson's mixture, cresyl violet, luxol-fast-blue (with There were no secondary sexual characteristics, the testes cresyl violet) or Heidenhein's method for myelin, were undescended. Telangiectases were present on the http://jnnp.bmj.com/ Holzer's method and Mallory's phosphotungstic acid bulbar conjunctivae, the ears, the centre of the face, and method for glial fibres; nerve fibres were stained by the the shoulders. The thymus weighed 2-4 g. The tracheo- Palmgren method (1948) in paraffin sections and by the bronchial lymph nodes were much enlarged. There was Gros-Bielschowsky method in celloidin sections. Sections bilateral confluent bronchopneumonia. The liver was from selected blocks were stained with the periodic acid- enlarged (weight 1,080 g.) and ochre coloured. The other Schiff technique. organs appeared normal. There was an abnormality ofthe upper cervical vertebrae. The gap between the edge of the CLINICAL AND NECROPSY FINDINGS IN THREE CASES foramen magnum and the atlas and between the atlas and axis was large. The atlas was unusually long and broad on September 25, 2021 by CASE 1 C.C., a boy aged 15 (Maudsley no. 3433), was and had prominent articular surfaces. The brain weighed normal until the age of 4 when, following measles, he had 1,480 g. fresh. The meninges were very congested. The his first attack of otitis media. At this time his gait was cerebellum was small and firm. Coronal sections through noted to be unsteady. By the time he was 6 years old, he the fixed cerebral hemispheres showed normal sized had had many attacks of otitis media, sinusitis, and lung ventricles; grey and white matter looked normal but were infection. Neurological examination showed severe cere- congested. The spinal cord showed atrophy of the bellar ataxia, dysarthria, and nystagmus. Power, tone, posterior columns especially of the fasciculus gracilis. 489 J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.29.6.489 on 1 December 1966. Downloaded from 490 Sabina J. Strich CASE 2 L.M., a girl aged 11 (Maudsley no. 3298), was cerebellar ataxia, nystagmus, slurred speech, and sudden referred to hospital at the age of 20 months because of an tremors of the hands. She also had a slight right ptosis unsteady gait. Shortly afterwards drooling of saliva began and early pes cavus. Sensation was normal. The right and persisted all her life. At the age of 5 she had well- sternomastoid muscle was absent. On her final admission, marked cerebellar ataxia withintentiontremor, dysarthria, aged 12, she had bilateral ptosis, eye movements were and nystagmus. She had a mask-like face but a slow and limited in all directions, the face lacked expression, and charming smile. She had a stooping posture. Athetoid there was loss of position sense in addition to the cere- movements of the arms were present. From then on there bellar signs. The tendon reflexes were absent. She was was progressive deterioration though the neurological small and there was weakness and wasting of muscles. signs fluctuated, being more marked during periods of This child never developed telangiectasia. infection. By the age of 10 the patient was unable to Family history The elder brother suffers from pro- walk unaided or to dress herself because of incoordination gressive ataxia and has developed telangiectases. He does and some muscle weakness. Strabismus was noted. Her not suffer from recurrent infections. intellectual performance had deteriorated. Sensation Investigations At the age of 11 the serum y-globulin remained normal and the tendon reflexes were present was reported to be decreased. At the age of 12 the though they became sluggish towards the end of the ill- electrophoretic pattern of y-globulin was found to be ness. At the age of 8 years telangiectases appeared on the abnormal in that the a2 and P fractions were increased. bulbar conjunctivae; the skin, especially round the eyes, Necropsy findings The body was very wasted, the became pigmented and her hair began to go grey. calves and small muscles of the hands being particularly When 8 months old she had severe whooping cough affected. The right sternomastoid muscle was absent. The and at 14 months she had measles and pneumonia. Later thymus was atrophied. The pleural cavities were oblitera- she had chickenpox and herpes zoster. During the rest of ted by adhesions. There was bullous emphysema, her life she had numerous attacks of pneumonia, otitis collapse of lung and bronchopneumonia. The tracheo- media, and sinusitis; bronchiectasis developed. At the age bronchial lymph nodes were enlarged. The right ventricle of 6 she had pulmonary tuberculosis. A Mantoux test at ofthe heart was hypertrophied. The other organs appearedguest. Protected by copyright. the time was positive at 1:1,000 but became negative after normal. The brain weighed 1,250 g. fresh. The cerebellum treatment of the tuberculous infection. She died aged 11 was atrophied and felt firm. Coronal sections through the of lung infection and bilateral pneumothorax. fixed cerebral hemispheres showed no abnormalities. The Family history Two elder siblings are normal. No spinal cord looked normal but the posterior roots in the other member of the family is affected. cauda equina were grey and thinner than normal. Investigations The cerebrospinal fluid was normal on several occasions. The electroencephalogram was normal. HISTOLOGICAL FINDINGS A serum y-globulin deficiency, particularly of y-A- globulin was found. These were extraordinarily similar in the three cases. The lungs showed evidence of past and recent infec- Gamma Globulins (mg./100 ml.) yG yA yM tion. The liver showed fatty change, severe in case 1. At 9 years 1120 60 100 There was round cell infiltration of the portal tracts. At 11 years 280 <1 60 The kidneys showed small foci of inflammatory cells Reference serum >600 160 60 and areas of nephrocalcinosis. Heart, adrenals, thyroid, salivary glands, and pancreas appeared Necropsy findings The body Mvas that of a very small normal. There was severe atrophy of the testis in case and wasted girl. The scalp hair w;as grey and thin. There 1 and of the ovaries in case 2. (The genital organs were telangiectases on the bulbar c onJunctivae. There was were not examined in case 3.) Lymph nodes showed a pneumothorax bilaterally, bronchiectasis of the lower loss of follicular pattern, reduction in number or lobe of the left lung, and a necrotic http://jnnp.bmj.com/ were enlarged. The absence of lymphoid follicles, reticulum cell hyper- lung. The paratracheal lymph nodless thymus weighed 1 g. The ovaries were very small. The plasia, and large numbers of histiocytes.
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