<- Home <- Arhive <- Vol. 26, Issue 2, June 2018

Rom J Leg Med26(2)145-150(2018)
© Romanian Society of Legal Medicine

Pulmonary idiopathic hemosiderosis coexisting with Smith-Lemli-Opitz syndrome: autopsy case report

I. Z. Radu,

Abstract: Objective. Idiopathic pulmonary hemosiderosis (IPH) is an affection of unknown region that manifests by recurrent episodes of bleeding in the lung alveoli, more frequent in children and boys aged less than 10 years old. The clinical tableau is represented by chronic cough, variable pulmonary insufficiency, hemoptoic sputum and recurrent hemoptysis. In some circumstances, IPH is a potential death factor due to a catastrophic pulmonary hemorrhage, because IPH may evolve undetected as radiographic examinations may reveal inconspicuous alterations like a bilateral diffuse interstitial infiltrate. The aim of this article is to highlight the possibility of IPH occurrence in the context of accompanying genetic anomalies that may obscure this issue - like Smith-Lemli-Opitz syndrome.
Case report. We present the case of a 3 months old boy multiple hospitalized for sepsis neonatorum, dyspnea, coughing, leukocytosis, failure to thrive, feeding difficulties, low weight, microcytic hypochromic anemia, low cholesterol levels with high alkaline phosphatase levels and congenital malformations consisting in narrow forehead, hypertelorism, micrognathia, arched palate, acrocyanosis, bilateral cryptorchid testis and wide bilateral halluces accompanied by an unilateral syndactyly involving second and third toes in the left foot, thus, suggesting a genetic phenotype comprised in-between Rubinstein-Taybi (RTS) and Smith-Lemli-Optiz (SLOS) syndrome. Eventually the patient died due to a massive pulmonary hemorrhage and cardiac failure at home. Medical autopsy and histopathological examinations revealed cerebral edema, concentric cardiac hypertrophy, bilateral IPH, dystrophic liver and glomerular sclerosis and necrosis in kidneys. Adrenals had an atrophic zona glomerularis and a hyperplastic zona fasciculata concomitant with diffuse hemorrhagic necrosis. The concluded diagnosis was that of an IPH in the context of SLOS with RTS features.
Conclusion. Although genetic syndromes like RTS and SLOS may be easily recognized and have a well-established medical management for potential life-threatening situations, the coexistence of IPH, less documented, should be taken in account as early as possible during lifetime in despite of inconspicuous imagery, especially when respiratory banal symptoms may emerge, otherwise inappropriate approach may be endangering the patient for a refractory terminal event.
Keywords: Idiopathic pulmonary hemosiderosis, hypocholesterolemia, Smith-Lemli-Opitz syndrome, Rubinstein- Taybi syndrome, children.

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