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Journal of Indian Association of Pediatric Surgeons
     Journal of Indian Association of Pediatric Surgeons
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Year : 2015  |  Volume : 20  |  Issue : 3  |  Page : 153-154

Hirschsprung's disease with infantile nephropathic cystinosis

1 Department of Pediatric Surgery, All India Institute of Medical Sciences, New Delhi, India
2 Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India
3 Department of Ophthalmology, All India Institute of Medical Sciences, New Delhi, India
4 Department of Pathology, All India Institute of Medical Sciences, New Delhi, India

Date of Web Publication18-Jun-2015

Correspondence Address:
Prof. Veereshwar Bhatnagar
Department of Pediatric Surgery, AIIMS, New Delhi - 110 029
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0971-9261.159033

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The case of a 3-year-old boy diagnosed to have Hirschsprung's disease with infantile nephropathic cystinosis is being reported. Both these conditions are etiologically and genetically different as per current understanding and available information. The association is incidental and has not reported before in the English literature.

Keywords: Cysteine, Hirschsprung′s disease, infantile nephropathic cystinosis

How to cite this article:
Mittal D, Bagga A, Tandon R, Sharma MC, Bhatnagar V. Hirschsprung's disease with infantile nephropathic cystinosis. J Indian Assoc Pediatr Surg 2015;20:153-4

How to cite this URL:
Mittal D, Bagga A, Tandon R, Sharma MC, Bhatnagar V. Hirschsprung's disease with infantile nephropathic cystinosis. J Indian Assoc Pediatr Surg [serial online] 2015 [cited 2021 Jun 23];20:153-4. Available from: https://www.jiaps.com/text.asp?2015/20/3/153/159033

   Introduction Top

Cystinosis is a condition in which the body accumulates the amino acid cysteine. [1] It is a lysosomal storage disease. In Hirschsprung's disease, there is absence of ganglion cells in the myenteric plexus of the bowel. There is no known etiological or genetic basis for this association, and this association has not been reported before.

   Case Report Top

A 3-year-old boy presented with the chief complaint of constipation since birth. He was a full term normal vaginal delivery in another hospital. He passed urine on day 1 and meconium on day 4 of life. The severity of constipation increased with age, and he was started on daily enema and rectal washes 6 months back. He was also diagnosed to have rickets for which the treatment was initiated by the pediatrician. On examination, the child was thin-built, pallor was present and on per rectal examination the rectum was empty with no blast sign upon removal of the finger. On investigations, he was diagnosed as a case of Hirschsprung's disease; anorectal manometry showed that the rectosphincteric reflex was absent; barium enema showed a transition zone at the rectosigmoid junction and rectal biopsy at 3 cm and 5 cm from the anal verge showed absence of ganglion cells with presence of hypertrophic nerve bundles. He was treated by the Swenson's pull through procedure.

During the postoperative period, he developed severe metabolic acidosis and respiratory distress that required mechanical ventilation for 7 days. A pediatric medical consultation was sought for possible cause of respiratory distress and acidosis. It was then revealed that he had polydipsia and polyuria since infancy. He was diagnosed to have renal tubular acidosis but the definite cause was not known. Further evaluation led to the detection of cysteine crystals all over the cornea during an ophthalmologic examination [Figure 1]. However, he did not have any ocular symptoms. He was started on oral cysteamine and levothyroxine as there was laboratory evidence of hypothyroidism. The patient improved significantly and had weight gain. Presently, he is passing stools normally.
Figure 1: Corneal crystals on slit lamp examination

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   Discussion Top

Cystinosis is a rare autosomal recessive disorder involving lysosomal storage of the amino acid cysteine due to a defect in the membrane transport protein, cystinosin. [1] There is intracellular accumulation of cysteine in all organs and tissues. The prevalence of cystinosis is approximately 1:1, 00, 000 to 1:2, 00, 000. Nephropathic or classic infantile cystinosis, the most severe form, inevitably leads to terminal renal failure in the first decade of life. About 95% of cystinosis patients have the nephropathic form. The disease is caused by mutations in the gene encoding cystinosin, lysosomal cysteine transporter on chromosome 17p3. [2] It is expressed in the cells of all tissues. The renal tissue is the most sensitive for its accumulation. Cysteamine was introduced as a possible treatment for cystinosis in 1976. Cysteamine enters the lysosome through an unknown transporter where it breaks the disulfide bond in cysteine, leading to the formation of cysteine and cysteine-cysteamine disulfide. [3],[4] Cysteine can leave the lysosome through the cysteine transporter, the cysteine-cysteamine disulfide via an as yet unidentified cationic amino-acid transporter. Thus, cysteine accumulation is decreased in cells, and there is improvement in symptoms. It is the only treatment available for this disease. However, the drug is not available in our country and hence, availability is also a major issue.

Hirschsprung's disease is a type of simple nonneoplastic neurocristopathy. The RET proto-oncogene that is present on chromosome 10q11 is responsible for 35% of sporadic, 49% of familial and 76% of long segment Hirschsprung's disease. [5],[6]

An extensive search of literature did not reveal any report on the association of cystinosis with Hirschsprung's disease or any other neurocristopathy. On the basis of available information, this seems to be an incidental association.

   References Top

Gahl WA, Thoene JG, Schneider JA. Cystinosis. N Engl J Med 2002;347:111-21.  Back to cited text no. 1
Gahl WA, Kuehl EM, Iwata F, Lindblad A, Kaiser-Kupfer MI. Corneal crystals in nephropathic cystinosis: Natural history and treatment with cysteamine eyedrops. Mol Genet Metab 2000;71:100-20.  Back to cited text no. 2
Gahl WA, Reed GF, Thoene JG, Schulman JD, Rizzo WB, Jonas AJ, et al. Cysteamine therapy for children with nephropathic cystinosis. N Engl J Med 1987;316:971-7.  Back to cited text no. 3
Anikster Y, Lucero C, Touchman JW, Huizing M, McDowell G, Shotelersuk V, et al. Identification and detection of the common 65-kb deletion breakpoint in the nephropathic cystinosis gene (CTNS). Mol Genet Metab 1999;66:111-6.  Back to cited text no. 4
Chakravarti A, Lyonnet S. Hirschsprung disease. In: Scriver C, Beaudet AL, Valle D, Sly WS, Childs B, Kinzler K, et al., editors. The Metabolic and Molecular Bases of Inherited Disease. 8 th ed. New York: McGraw-Hill; 2001. p. 6231-55.  Back to cited text no. 5
Mulligan LM, Ponder BA. Genetic basis of endocrine disease: Multiple endocrine neoplasia type 2. J Clin Endocrinol Metab 1995;80:1989-95.  Back to cited text no. 6


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