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|Year : 1989 | Volume
| Issue : 2 | Page : 114-5
Di-George's syndrome with multiple infections (an autopsy report).
S Y Sane
Source of Support: None, Conflict of Interest: None
Di-George's syndrome is a rare condition of congenital immunodeficiency. An infant presented as hypocalcemic tetany with multiple infections. Autopsy confirmed the hypoplasia of thymus and thyroid associated with other anomalies. A brief of the relevant literature is presented.
Keywords: Bacterial Infections, Candidiasis, Case Report, DiGeorge Syndrome, complications,Female, Human, Hypocalcemia, complications,Immunologic Deficiency Syndromes, complications,Infant, Opportunistic Infections, Pneumonia, Pneumocystis carinii, Tetany, etiology,
|How to cite this article:|
Sane S Y. Di-George's syndrome with multiple infections (an autopsy report). J Postgrad Med 1989;35:114
| :: Introduction|| |
Di-George's syndrome is a rare condition with congenital constellation of anatomic and functional failure of thymus. It is generally associated with failure of development of other structures derived from 3rd and 4th pharyngeal pouch and many other congenital defects. The degree of failure of thymic development widely varies. There may be minimal thymic deficiency with spontaneous acquisition of normal function to severe hypoplasia leading to both T and B cell deficiency. An autopsied case ok Di-George's syndrome with such extreme hypoplasia of thymic and bursa-dependent lymphoid tissue is described here. Severe immunodeficiency lead to multiple infections.
| :: Case report|| |
A 3½ month old female infant was admitted with signs and symptoms of hypocalcemic tetany and bronchopneumonia. She was a full term normal hospital delivery with birth weight of 2.1 kg She was born of consanguineous marriage and following anomalies were noted at birth-wide cleft palate, short neck, dextrocardia, accessory ear tags and bilateral cataract. The baby was admitted twice for hypocalcemic tetany. The serum calcium levels done at all admissions ranged from 4.5 mg% to 8 mg% and S. phosphorous was 4.9 to 7.4%. Alkaline phosphatase was 74 KA units. Other investigations done were Hb 9.3 gm%, PCV 29, T.L.C. 6000/cmm with P 54%o, L 44%, E. 2%. Chromosomal studies revealed no abnormality. Immunoglobulins and T cell profiles were not done. The infant succumbed to infections inspite of higher antibiotics and treatment for hypocalcemia.
Autopsy examination revealed total situs invursus in addition to above mentioned anomalies. The heart was normal except reversal of position. The thymus was flat streak like and showed mainly adipose tissue with few clusters of lymphocytes. The thyroid showed fetal type acini. Parathyroids could not be detected. Spleen was devoid of white pulp. Mesentric nodes were markedly hypocellular. Other lymphoid tissue of G.I. tract was not developed. Various infections noted in histo-sections were oral candidiasis, pyogenic meningitis, pyogenic abscess in kidney, and multiple ulcers in color. Lungs showed bacterial type broncho-pneumonia as well as interstitial pneumonia with infection by protozoal parasite Pneumocystis carinii.
| :: Discussion|| |
In 1965 Di-George described a form of congenital hypoparathyroidism associated with hypoplasia of thymus and recurrent infection. It is known to be a developmental defect of structures derived from 3rd and 4th pharyngeal pouch. Apart from the thymus and parathyroid defect, hypoplastic mandible, abnormal ear lobes and short philthrum are also described., Congenital heart disease and aortic arch defects may be present,, Our case revealed total situs inversus.
It is postulated that premature involution of thyroidea-ima artery which is the principal source for supply of 3rd and 4th pharyngeal pouches and ultimobranchial body may be the critical event in the embryogenesis of these anomalies. Amman et al described four cases with clinical features of Di-George's syndrome having definite history of maternal alcoholism. Some clinical abnormalities were common for Di-George's syndrome and fetal alcohol syndrome. Maternal alcoholism may result in Di-George's syndrome either as single cause or with other unknown teratogens. There was no history of maternal alcoholism, or other drugs during pregnancy in this case.
A characteristic feature of the syndrome is marked variability in the expression manifested by range of clinical symptoms varying from minimal thymic deficiency with spontaneous acquisition of normal T cell function to such a severe involvement that B cell deficiency is also present. Thymus on histology may reveal lymphocyte deficiency, reticular hypoplasia to complete aplasia. Our case represents the severe stage with almost total aplasia of thymus resulting in congenital immunodeficiency. Lymphoid tissue of intestinal tract, spleen and other lymphnodes also failed to develop. Hence uncontrollable bacterial infection as well as opportunistic infection by candida and Pneumocystis carinii was present. Foetal thymic transplantation would be the only effective treatment in such cases.
| :: Acknowledgement|| |
The author is thankful to the Dean, Seth G.S. Medical College, Parel, Bombay 400 012 for allowing this material for publication.
| :: References|| |
|1.||Amman, A. J., Wara, D. W., Barret, D. J. and Steiehm, R.: The Di George syndrome and fetal alcohol syndrome Amer. J. Dis. Child., 136: 906-908, 1982. |
|2.||Di George, A. M.: Congenital absence of thymus and its immunologic consequences: Concurrence with congenital hypoparathyroidism. Birth Defects, 4: 116-122, 1968. |
|3.||Haynes, R. Jr.: Di George or the III and IV pharyngeal pouch syndrome. In, "Perspectives in Paediatric Pathology". Vol. II Editors: Rosenberg and Bolande. Year Book Med. Pub]. 1975, pp. 173. |
|4.||Hong, R.: Immunity allergy and related diseases. In, "Nelson Textbook of Pediatrics. Editors: Nelson, Vaughan, Mckay and Behrman". W. B. Saunders Co. Philadelphia, pp. 594. |
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