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Year : 2013  |  Volume : 14  |  Issue : 3  |  Page : 76-78

LEOPARD syndrome with ischemic heart disease and eosinophilic pleural effusion in a teenage girl

1 Department of TB and Respiratory Medicine, Pt. B.D. Sharma, PGIMS, Rohtak, Haryana, India
2 Department of Community Medicine, Pt. B.D. Sharma, PGIMS, Rohtak, Haryana, India
3 Department of Skin and V.D., Pt. B.D. Sharma, PGIMS, Rohtak, Haryana, India

Date of Web Publication26-Nov-2013

Correspondence Address:
Ruchi Sachdeva
Department of Respiratory Medicine, PGIMS, Rohtak
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/2319-7250.122170

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LEOPARD syndrome is a rare congenital disorder characterized by the constellation of skin, facial and cardiac abnormalities. Most cases with this diagnosis have only a few of the features described and patients with full clinical spectrum are very rare. We report a case of 15-year-old rural school going teenage girl born to non-consanguineous parents with lentigines, cardiac abnormality (mild mitral regurgitation with ischemic heart disease), hypertelorism, kyphoscoliosis and presentation of exudative eosinophilic pleural effusion.

Keywords: Cardiac, congenital, girl, hyper telorism, ischemic heart disease, kyphoscoliosis, lentigines, LEOPARD syndrome, pleural effusion

How to cite this article:
Sachdeva R, Sachdeva S, Ghosh S. LEOPARD syndrome with ischemic heart disease and eosinophilic pleural effusion in a teenage girl. Indian J Paediatr Dermatol 2013;14:76-8

How to cite this URL:
Sachdeva R, Sachdeva S, Ghosh S. LEOPARD syndrome with ischemic heart disease and eosinophilic pleural effusion in a teenage girl. Indian J Paediatr Dermatol [serial online] 2013 [cited 2022 Jan 20];14:76-8. Available from: https://www.ijpd.in/text.asp?2013/14/3/76/122170

  Introduction Top

 LEOPARD syndrome More Details is a congenital condition characterized by the constellation of skin, facial and cardiac abnormalities and inherited in an autosomal dominant pattern, originally described by Gorlin et al. [1] It is characterized with an acronym for lentigines, electrocardiographic conduction defects, ocular hypertelorism, pulmonary valve stenosis, abnormalities of the genitalia, retardation of growth and deafness.

  Case Report Top

A 15-year-old rural school going adolescent girl born to non-consanguineous parents presented with intermittent fever, dry cough and right side chest pain since last 12 days. On general physical examination, non-itchy lentigines measuring up to 5 mm throughout the body since birth, hypertelorism, triangular face, low set ears, web-neck [Figure 1], kyphoscoliosis in the thoracic area with concavity toward the left side and pallor were present. Her father had a history of skin pigmentation of a similar nature died few years back, but cause of death could not be ascertained. Siblings were apparently normal. Vitals were within the normal range. On respiratory examination, chest movements were decreased in the right lower side, dull note on percussion with absent breath sound on auscultation. Other systemic examinations (eye, ear, nose and throat, dental, genitourinary, mental evaluation including intelligent question-IQ) were within the normal limits other than those stated Menarche with the normal flow since the age of 13 years.
Figure 1: Clinical feature of patient with lentigines, hypertelorism, low set ears and web‑neck

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Investigations revealed hemoglobin-7.5 g/dl, total leukocytes count-5500/mm 3 , differential leukocyte count (N-61, L-20, B-2, E-17); platelet-4.5 lakh; kidney function and liver function tests were within normal limits; mantoux-0/0 mm; serology for hepatitis A was negative, stool for ova and cyst were negative, thyroid function test (T3, T4, thyroid stimulating hormone-normal). Chest X-ray revealed right sided pleural effusion and kyphoscoliosis [Figure 2]. Ultrasonography (USG) thorax-right side pleural effusion seen, point of aspiration marked 3.5 cm deep to skin; contrast enhanced computed tomography thorax-right side pleural effusion with no mediastinal lymphadenopathy seen, bilateral lung fields normal, air passage appeared normal; USG abdomen was normal. Pleural fluid examination revealed protein-5.3 g%, negative for acid fast bacilli; cytology-showed inflammatory cells comprising mainly of eosinophils along with neutrophils and lymphocytes in the background of proteinaceous material and red blood cells. Echocardiography revealed mild mitral regurgitation (MR), hypokinetic posterior inter-ventricular septum with left ventricular ejection fraction of 50% and diagnosed as ischemic heart disease. Patient was managed conservatively with improvement of clinical condition.
Figure 2: Chest X‑ray depicting kyphoscoliosis and pleural effusion (right)

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  Discussion Top

The underlying genetic defect associated with the development of the syndrome has been located on chromosome 12 (gene map locus 12q24.1) and the responsible gene is protein tyrosine phosphatize non-receptor type 11 (PTPN11), which codes for PTPN, SHP2. Mutations in the same gene are known to lead to a number of congenital defects, among them Noonan syndrome, cardiomyopathic lentiginosis and LEOPARD syndrome. [2],[3]

Based on the clinical analysis of a large series of patients, Voron et al. in 1976 proposed minimum criteria for the diagnosis of LEOPARD syndrome: Multiple lentigines must be present and; features of at least two other systemic features must be present as: Other cutaneous abnormalities, cardiac structural or electrocardiographic abnormalities, genitourinary abnormalities, endocrine abnormalities, neurologic defects, cephalo-facial dysmorphism, shortness of stature and skeletal abnormalities. [4] Conversely, pulmonary stenosis and according to recent reports hypertrophic cardiomyopathy represents the life-threatening problem in these patients. [5] However, our case had mild MR with ischemic heart disease in very young age, with no other reported case of this cardiac defect on review of the literature. Further, in all possibility, patient had concomitant idiopathic eosinophilic pleural effusion that was managed conservatively.

In a developing country like India, girls are often at a social disadvantage and the health problem further gets compounded with difficult access to medical experts. It was not surprising to note that even with the presence of associated anemia, patient did not report exertional breathlessness, as she was leading a sedentary life-style with poor quality-of-life and no interest in studies. Challenging circumstances had made the family accept it as their ill-fate. Even when these features were present irrevocably, it would have been ascribed to more commonly prevalent anemia in the young girl without even remotely linking it to be cardiac in origin. The clue to definite diagnosis relies only on the high index of suspicion and systemic examination or else these patients keep shunting between different specialties departments or ultimately land to quacks. Local paramedics and health personnel have to be vigilant to screen, identify high risk individual at an early stage and refer to the appropriate center for comprehensive evaluation. The family was counseled and the patient was directed to be under constant supervision of cardiac expert.

  Acknowledgment Top

The authors would like to thank Department of Chest, and Respiratory Medicine, Cardiology, and Radiology, Pt. B.D. Sharma, PGIMS, Rohtak-124001, India.

  References Top

1.Gorlin RJ, Anderson RC, Blaw M. Multiple lentigenes syndrome. Am J Dis Child 1969;117:652-62.  Back to cited text no. 1
2.Sarkozy A, Conti E, Digilio MC, Marino B, Morini E, Pacileo G, et al. Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome. J Med Genet 2004;41:e68.  Back to cited text no. 2
3.Adriaenssens T, Ibrahim T, Seyfarth M. The LEOPARD syndrome: A rare condition associated with hypertrophic cardiomyopathy. Eur Heart J 2007;28:3066.  Back to cited text no. 3
4.Voron DA, Hatfield HH, Kalkhoff RK. Multiple lentigines syndrome. Case report and review of the literature. Am J Med 1976;60:447-56.  Back to cited text no. 4
5.Sarkozy A, Digilio MC, Dallapiccola B. LEOPARD syndrome. Orphanet J Rare Dis 2008;3:13. Available from: http://www.ojrd.com/content/3/1/13. [Last cited 2012 Oct 01].  Back to cited text no. 5


  [Figure 1], [Figure 2]


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