CLINICAL BRIEFS : ANTRAL, JEJUNO-II.FAL ATRF~SIAS AND BILIARY PERITONrI'IS 383

2.

3.

atresia: A case report.Pediatrics 1973; 51 : 574. Hailer JA, Cahill JC. Combined congenital gastric and duodenal obstruction: Pitfalls in diagnosis and treatment SutF, ery 1968; 63 : 503-506. Guttman FN, Braun P, Grance PH et al. Multiple atresias and a new .wndrome of hereditary atresia involving the gastroin- testinal tract from stomach to rectum. J l'ediatr Sut~, 1973; 8 : 633-640.

4. Gahukamble DB. Coexistant antral and il- eal atresia: a case report. J Pediatr 1983; 56 : 286-288.

5. Bhargava RK, Kalani BP. Antral and mul- tiple intestinal atresias, lndicm Pediatr 1983; 20 : 71-73.

6. Teja K, Schnatterly P, Shaw A. Multi- ple intestinal atresias : Pathology and pa- tho-genesis. J Pediatr Surg 1981; 16 : 194-199.

L-Thyroxine Therapy for Congenital Hypothyroidism and Marfan Syndrome

Rakesh Khanna and Siddharth Dixit

Department of Psychiatry Central h~stitute of Psychiat~. , Kanke, Ranchi

The effect of thyroid hormone on the skele- ton has been a bone of contention. 1 Recent data suggests that long-term L-thyroxine (L-T4) therapy, which is often given in su- praphysiologic dosages, may predispose pa- tients to decreased bone density in the hip, and may increase the risk of age-related bone loss). The appropriate replacement dose of L-T 4 is now considered to be 1.6 l~g/kg body weight) We report here a pa- tient with congenital hypothyroidism (CHT), on long-term L-T 4 therapy, who in her teens showed features of Marfan syn- drome.

CASE REPORT

A 13-year-old girl was referred to us for �9 scholastic backwardness. She was born one

month postdated of a non-consanguineous union. At three months of age she was found to cry excessively on lying supine. She had prominent belly with umbilical hernia,

coarse facial features, large tongue, hoarse cry, dry and thick skin. The consulting pe- diatrician made a clinical diagnosis of CHT. Since about five months of age she was on continuous L-T 4 therapy, the daily dose ranging from 100 Itg to 300 pg. Thyroid function tests were however done only dur- ing the last six years with TSH levels rang- ing from 0.25 to 0.9 ngt/ml. About one year back she had complained of tiredness, pal- pitation and--breathlessness on exertion. Thyroid function tests revealed T 3 level of 1.9 ,ug/ml. (N = 0.8-1.6 ng/ml), T 4 levels 18.6 t tg/ml (N = 50-11.5 ltg/dl) and TSH 0.25 nv•/ml (N = 0.5-4.0 mtt/ml. L-T 4 dose was reduced from 300 to 200 ttg per day.

On physical examination she was a tall, thin girl with underdeveloped musculaturc, and body wcight of 34 kg. She had arach- nodactyly, hyperflexible joints with positive thumb sign and wrist sign, scoliosis, flat foot and high arched palate. Her armspan was

"FILE INDIAN JOURNAL OF PEDIATIL1CS Vol. 59, No. 3

greater than height (160.5 cm to 155 cm). Her ratio of upper segment to lower was 0.825. Cardiovascular examination revealed tachycardia ( l l5 /minute) with mid-systolic ejection click and late systolic murmur. She had a congenital convergent squint.

Currently she had T 3 level of 0.8 ng/ml (N = 0.8--2.1 ng/ml) T 4 level 10.0/~g/dl (N = 4.2-12.0,ug/dl) and TSH 0.8 m/~/ml (N = 0.7-5.0 m/~/ml). Echocardiography showed evidence of mitral valve prolapse (MVP). Slit lamp examination of the eye was normal. Sodium nitroprusside test was negative. She had mild mental retardation. She was referrcd to an endocrinologist and has since not reported for follow up.

DISCUSSION

This girl had clinical evidence of CHT and was on long-term L-T 4 therapy. The daily dose of L-T 4 was much higher to the cur- rently advocated dosage per kg body weight. TSH levels ranged from 0.25 to 0.9 mkt/ml. She showed skeletal abnormalities of Mar- fan syndrome and MVP. Although endocri- nologic abnormalities, e.g. abnormal water metabolism and menstrual abnormalities have been reported with Marfan syndrome, 4 thyroid dysfunction has not been reported in literature. The clinical phenotype of pa- tients with MVP constitute a continuum, from Marfan syndrome at one extreme to isolated MVP, due to myxomatous prolif- eration of the valve leaflets. 5 Whether a pa- tient with mitral valve prolapse, in the ab- sence of ectopia lentis or a family history

has Marfan syndrome, or another heritable disorder of connective tissue continues to be a clinical challenge, s

The coexistence of CHT and Marfan Syndrome is a clinical paradox. We are not aware of any such report in literature. It is difficult to be sure whether this represents the co-occurrence of two unrelated condi- tions, or long term use of supra-physiologic dosages of L-T 4 may have played some role in bringing about the skeletal changes. Wc emphasize the need for more careful moni- toring of replacement of thyroid hormone dosage in childhood.

REFERENCES

1. Cooper DS. Thyroid hormone and the skeleton : A bone of contention. JAMA 1988; 259 : 3175.

2. Paul TL, Kerrigan J, Kelly AM et al. Long term L-thyroxine therapy is associated with decreased hip density in pre-menopausal women. JAMA 1988; 259 : 3137-3141.

3. Fish LH, Schwartz, HL, Cavanaugh Jet al. Replacement dose, metabolism and bio- vailability of lcvothyroxine in the treat- ment of hypothyroidism : Role of tri-iodo- thyroxine ill pituitary feedback in humans. New EnglJMed 1986; $i6 : 364-370

4. Leone JC, Swigar ME. Marfan's syndrome and neuropsychiatric symptoms : Case re- port and literature review. Comp Psychia- try 1986; 27 : 247-250.

5. Glesby M J, Pyeritz RE. Association of mi- tral valve prolapse and systemic abnor- malities of connective tissue. JAMA 1989; 262 : 5Z:;-528.