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PROGERIA (HUTCHINSON-GILFORD SYNDROME) REPORT of a CASE and REVIEW of TUE LITERATURE by JAMES THOMSON and JOHN 0

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PROGERIA (HUTCHINSON-GILFORD SYNDROME) REPORT of a CASE and REVIEW of TUE LITERATURE by JAMES THOMSON and JOHN 0 Arch Dis Child: first published as 10.1136/adc.25.123.224 on 1 September 1950. Downloaded from PROGERIA (HUTCHINSON-GILFORD SYNDROME) REPORT OF A CASE AND REVIEW OF TUE LITERATURE BY JAMES THOMSON and JOHN 0. FORFAR From the Department of Medical Diseases of Children, University of St. Andrews and Royal Infirmary, Dundee (RECEIVE FOR PUBUCATrON JANUARY 24, 1950) . the poor little boy didn't live to contrive, a typical progerian skull. Cases have, however, been His health didn't thrive, described in foreign literature and the outstanding No longer alive, He died an enfeebled old dotard at five. feature of these descriptions is the striking similarity W. S. GILBERT (1869). in appearance which all typical cases present. Variot and Pironneau (1910), unaware of Gilford's The fist case ofprogeria to be described in medical work, used the term nanisme senile in describing literature was that of Hutchinson in 1886, under the their case. A case described by Schippers (1916) title of ' Congenital Absence of Hair and Mammary was redescribed by Manschot (1940) 24 years later. Protected by copyright. Glands.' Hastings Gilford (I 8S9 ) recognizng me con- dition as a clinical entity, described a case of his own (Figs. 1 and 2) and redes- cribed Hutchinson's original case. He introduced the term progeria ( ;pos piematurely old). There is a tendency to use this term in connexion with other forms of early senility both in children and in adults but we agree with Crooke (1948) http://adc.bmj.com/ that it should be reserved for the specific syndrome first described by Hutchinson and Gilford. Gilford considered it likely that a description of this syndrome would lead to the more frequent recognition of on September 25, 2021 by guest. other cases and that it might be much more common than supposed. This opinion has not been borne out because we find that there has been no typical case of progeria reported in British literature e aged 7 years. since the original two cases, although Parsons (1949) and IsIIt IC 4 LLc 4JJ ACJ (YI ) l& Usc ICICIIUU LU 4 L;ZIW dHU 1%.VILAU (I-YI-Ij HaS aeSMOW FIG. 2-Gilord 224 csm ag1dl7es. Arch Dis Child: first published as 10.1136/adc.25.123.224 on 1 September 1950. Downloaded from A REVIEW OF PROGERIA 225 TABLE 1 TypicAL CAsES OF PROGERiA RECORDED IN THE LITERATuRE .0 of °0 of Sex Age Weight Expected Height Expected Age at Necropsy (years) (kg.) Weight (cm.) Height Death I Hutchinson (1886) and Gilford (1897) .. .. .. M. 15 17-2 33 109 67 17 2 Gilford (1897) .. M. 14 16-3 36 104 66 18 3 VariotandPironneau(1910) F. 15 11-6 23 102 64 15 4 Schippers (1916) .. - M. 4 11-3 66 84 81 Manschot (1940) .. .. 26 15-6 26 115 67 26 5 Oricco (1918) and Orrico and Strada (1927) -. .. M. 19 15-4 26 113 66 21 x 6 Nasso (1925) .. .. .. F. 44 83 81 7 Curtin and Kotzen (1929) -- F. 7 11- 7 54 96 80 9 8 Strunz (1929) .-. .. F. 64 9-4 45 90 77 9 Thiers and Nahan (1933) .. M. 19 23-2 39 131 77 =4 yrs. =4 yrs. Protected by copyright. 10 Schiff (1934) .. .. F. 64 (16-6) (79) (100) (86) 11 Exchaquet (1935b) .. .. F. 14 12-9 28 113 73 12 Broc et al. (1935) .. .. M. 11 14-0 42 116 82 13 Popek and Hadlik (1938) . F. 8 11-2 45 99 82 14 Mitchell and Goltman (1940) F. 10 12-7 42 105 78 15 Zeder (1940) .. .. .. M. 5 7-6 41 83 76 16 Schondel (1943) . F. 54 10-9 57 93 83 17 Talbot et al. (1945) .. M. 6 10-9 51 95 81 7 x 18 Schwartz and Cooke (1945) M. 5 9-8 53 83 76 http://adc.bmj.com/ Only 18 typical cases have so far been reported and of the characteristic features of typical cases. The these are enumerated in Table 1. clinical picture in progeria is so clear cut that we The cases described by Rand (1914), Lereboullet do not feel justified in including such variants in it. (1917), Farran-Ridge (1921), Paterson (1922), Talbot It may be that whereas progeria represents a total (1923), Harris (1927), Apert and Robin (1927), Apert pathological lesion some of these atypical cases (1933), Stoia and Andreoiu (1928), Halle and Odinet represent a partial lesion of the same nature or that on September 25, 2021 by guest. (1932), Pouzin-Ma1egue and Barraud (1932, 1934), in other cases the clinical picture has been modified Martinez (1935), Heuyer, Denoyelle, and Bernard by the occurrence at a later age period of the (1936), Stern and Lieberman (1937), Schachter-Nancy pathological processes responsible for progeria. (1938), Sundblad (1938), Korsgaard (1940), Muller- Gilford (191 la) has described a possible case Hess (1940), Gottron (1940), Schondel (1942- modified in this way by later age of onset. Gorter second case), Nery (1944), Moehlig (1946), van (1942) in describing a boy showing some of the Bolhuis (1948), and Wiedemann (1948) are not in signs of progeria, but lacking others, has suggested our opinion typical cases of progeria. that the term progeroid be applied to cases of this Most of these cases show, however, some of the type, that of progeria being reserved for classical manifestations of progeria but all of them lack some cases. There seem to be good grounds for making Arch Dis Child: first published as 10.1136/adc.25.123.224 on 1 September 1950. Downloaded from 226 ARCHIVES OF DISEASE IN CHILDHOOD a distinction and grouping of this sort. Waldorp and del Castillo (1928) had previously suggested the term gero-dystrophic infantilism for atypical cases. Gilford (1902, 1904a, 1904b, 1911a, 1911b, 1913) has discussed the subject of progeria at length and it has been reviewed by Apert and Robin (1927), Curtin and Kotzen (1929), Atkinson (1937), Schachter-Nancy (1938), Mitchell and Goltman (1940), Schondel (1943), Gorter (1942), and Wiede- mann (1948). Report of a Case History. S.R. came under our observation on September 21, 1946, when he was 22 months old on account of failure to gain weight (Figs. 3 and 4). He has been examined at intervals over a period of two and a half years, and the present description (June, 1949) refers to his condition at 41 years of age. His mother did not suffer from any illness throughout her pregnancy. Normal delivery took place at term and the birth weight was 5 lb. 4 oz. (2,382 g.). No abnormality was noted at that time. A normal amount of scalp hair was present and the skin appeared to be of normal texture. He is the first child of the present marriage. His mother, by a pre- Protected by copyright. viousmarriage, nas another male child aged 11 years who is normal. There have been no still- births or mis- carriages. Father, mother, and half- FIG. 4-S.R. aged 13 years. Scanty hair and crowded brother are well, lower teeth. and have not suffered from any described him as ' a difficult feeder.' One teaspoonful relevant illnesses. of cod liver oil was given daily when three months old The mother is of but this was continued for only a few months. He average stature, received no additional vitamin C. He was a contented but the father's baby and apart from difficulty in feeding and poor http://adc.bmj.com/ stature is below appetite he remained well until the age of 18 months, average; he has a his growth approximating to that of a normal child. small head and He sat up at 7 months, began to talk at the same age poorly developed and walked at 9 months. His first tooth did not appear chin but in no until he was over one year old. other detail does When he was about 20 months old his parents began he resemble his to realize that he was only gaining weight very slowly son. No history and was looking thinner. His hair was becoming sparse. of abnormal His appetite remained poor. He has become increasingly on September 25, 2021 by guest. physical develop- bald and prominent scalp veins have been noticed. A ment in other change in the facies to a sharp pinched appearance has relatives has been occurred and he has gradually become thinner. During obtained. the last two and a half years his weight has increased by S.R. was breast just over 4 lb. as against an expected gain of almost 10 lb. f e d f o r tw o His mother considers him to be well advanced months and fed intellectually for his age. He is fond of playing with thereafter on companions, likes to be the centre of attraction, and is National Dried easily offended. He prefers playing with toys to looking snxlc.w a voice. FIG. 3-S.R. aged 1I years snowing Milk1-111","11% yvw at books, likes to sing and does so in high pitched His mother his eyes remain half open. tunrion]*,7 F.- OC1x9tnnrft- milk. He sleeps well but when asleep Arch Dis Child: first published as 10.1136/adc.25.123.224 on 1 September 1950. Downloaded from A REVIEW OF PROGERIA 227 TABLE 2 MEASUREMENTS OF PRESENT CASE CoMPARED WiTH THOSE OF AN AVERAGE BOY a 9/L.4k S.R. Normal Weight .. .. 19 lb. 14 oz. (9-0 kg.) 37 lb. 5 oz. (16-9 kg.) Height .. .. .. .. .. 35 in. (88 9 cm.) 41-5 in. (105-4 cm.) Head circumference .. .. .. .. .. .. 181 in. (47-6 cm.) 20 in.
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