CONGENITAL CYSTIC ADENOMATOID MALFORMATION OF LUNG AND ECTOPIC KIDNEY IN A CASE OF SECKEL'S SYNDROME
Sutapa Ganguly, Tryambak Samanta
Department of Pediatric Medicine, NRS Medical College, Kolkata, West Bengal, India
Address for Correspondence
Dr Tryambak Samanta, 15/D, Lenin Sarani, Serampore, Dist Hooghly, WB- 712203.
Email
ts_ped@rediffmail.com
Keywords
Seckel's syndrome, cystic adenomatoid malformation of lung (CAM), ectopic kidney.
An eleven-year-old Bengali Muslim girl attended the pediatric medicine OPD for cough & cold for 2 weeks. Her short stature, bird like head and the characteristic facial features attracted our attention and she was admitted in the pediatric medicine ward. She was a product of consanguineous marriage with death of seven siblings in the neonatal period or early infancy. Two of the siblings were reported to be very small in size. At present she has two elder sisters 18 years and 16 years old and one younger sister and one younger brother 6 years and 3 years old respectively. The anthropometric measurement of the parents and living siblings are within normal limit. She was home delivered at 37 weeks of gestation and her size was as small as her mother's palm. There was history of delayed development of motor and mental milestones. On examination, her height was 76 cm (50% of expected), upper segment was 39 cms, lower segment 37 cms (US: LS ratio 1.05), and arm span was 75 cms. Her weight was 5 kg (13% of expected) and head circumference 38 cms. She had a beak like protrusion of the central area of face, prominent beaked nose, large eyes and ears, sparse hair and clubbing of fingers and toes. She was afebrile and active. Her respiratory rate was 38/min. There was shifting of mediastinum, to the left and there was coarse crepitation on the left side of chest. Laboratory studies revealed, Hb - 10.1 gm%, TLC- 10,400/cmm, neutrophil 38%, lymphocyte 60%, eosinophil 02%, ESR - 50 mm /1st hour. Blood culture yielded no organism. Mantoux test (with 5 TU) was negative. Skeletal survey revealed her bone age to be of 11 years. Thyroid function tests were normal. Basal level of pituitary growth hormone was normal (12 µg/dl) and that after producing hypoglycemia by subcutaneous human insulin was 19 mg/dl. Sweat chloride test was normal. Chest X-ray showed fibrosis of the left lung with same sided mediastinal shift. HRCT thorax revealed destruction of left lung parenchyma, which was replaced by numerous thin walled cystic lesions of almost uniform sizes with contraction of lung volume and ipsilateral mediastinal shifting. There was herniation of the right lung into the left and crowding of ribs on the left side. The findings were suggestive of congenital cystic adenomatoid malformation (CAM) of the left lung. (Figure 1) USG of abdomen showed left sided ectopic kidney in the pelvis with normal corticomedulary differentiation. In 6 months follow up there was no gain in height and weight of the child.

Figure 1. HRCT vertical section showing cystic adenomatoid malformation of left lung and shifting of mediastinum to same side.


This condition was given two names, bird-headed dwarfism and nanocephaly by Rudolf Virchow .(1) Seckel in 1960 described the disease picture on the basis of two cases he had studied in Chicago, as well as thirteen cases of nanocephalic dwarfs reported in literature over 200 year period. (2) In addition to dwarfism of low birth weight type, the features are small head, large eyes, beak-like protrusion of the nose, narrow face and receding lower jaw. Mental retardation is not as marked as might be expected in view of the very small brain. Multiple occurrences in the same siblings, increased frequency of parenteral consanguinity, occurrence in both sexes and normal parents suggest autosomal recessive inheritance. (3-5) Various associations with Seckel's syndrome are reported. Hayani et al described a female who was diagnosed as Seckel's syndrome at 2 years of age. At 26 years she was diagnosed as acute myeloid leukemia (AML) .(6) Different malformations of cortical development as documented by magnetic resonance imaging were described by Capovilla G et al. (7) One case was associated with Legg-Calve-Perthes disease .(8) There has been a report of association of Seckel's syndrome with CAM of the lung .(9) Our patient similarly had Seckel's syndrome with CAM in addition to ectopic kidney.

Contributors: SG was involved in clinical diagnosis, search of literature and finalizing the manuscript. TS was involved in management of the case and drafting of the manuscript.

Conflict of Interest: None

Funding: None

Acknowledgement: Arunava Bhattacharya for data collection.
References :
  1. Virchow R. Zwergenkind. Zeitschrift fur Ethnologie, Berlin, 1882, 14: 215.
  2. Seckel HPG. In: Bird-headed Dwarfs: Studies in Developmental Anthropology Including Human Proportions. Eds: Springfield C, Thomas C. S. Karger, Basel-New York, 1960.
  3. Black J. Low birth weight dwarfism. Arch Dis Child 1961; 36: 633-644.
  4. Harper RG, Orti E, Baker RK. Bird-beaded dwarfs (Seckel's syndrome). A familial pattern of developmental, dental, skeletal, genital, and central nervous system anomalies. J Pediatr. 1967; 70: 799-804.
  5. McKusick VA, Mahloudji M, Abbott MH, Lindenberg R, Kepas D. Seckel's bird-headed dwarfism. N Engl J Med. 1967; 277: 279-286.
  6. Hayani A, Suarez CR, Molnar Z, LeBeau M, Godwin J. Acute myeloid leukaemia in a patient with Seckel syndrome. J Med Genet. 1994; 31: 148-149.
  7. Capovilla G, Lorenzetti ME, Montagnini A, Borgatti R, Piccinelli P, Giordano L, et al. Seckel's syndrome and malformations of cortical development: report of three new cases and review of the literature. J Child Neurol. 2001; 16: 382-386.
  8. Rubbini L, Preti P, Sudanese A, Brillante C. Seckel's syndrome: presentation of one case associated with Legg-Calve-Perthes disease. Chir Organi Mov. 1991; 76: 193-195
  9. Aslan Y, Aynaci FM, Baki A, Soylu H, Harova G. Seckel's syndrome associated with congenital cystic adenomatoid malformation of the lung. Acta Paediatr. 1995; 84: 839-840.
Last Updated : Monday, February 01, 2010 Vol 7 Issue 2 Art #10
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Ganguly S, Samanta T. CONGENITAL CYSTIC ADENOMATOID MALFORMATION OF LUNG AND ECTOPIC KIDNEY IN A CASE OF SECKEL'S SYNDROME. Pediatric Oncall [serial online] 2010[cited 2010 January 1];7. Art #10. Available From : http://www.pediatriconcall.com/Journal/Article/FullText.aspx?artid=284&type=J&tid=&imgid=&reportid=278&tbltype=
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