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Diagnosis and treatment of Langerhans Cell Histiocytosis with bone lesion in pediatric patient: A case report.

ABSTRACT: Background:Langerhans cell histiocytosis (LCH) is a rare group of disorders without a well understood etiology. Known formerly as histiocytosis X, the disease has a wide spectrum of clinical presentations, including eosinophilic granuloma (solitary bone lesion), diabetes insipidus, and exophthalmos. Many of these patients initially present to orthopaedic surgeons, and misdiagnosis is frequent. Methods:We deliver a case of a 10-month-old boy who consulted to our department. Previously misdiagnosed as a Kawasaki syndrome, TORCH, and osteomyelitis. He had undergone several examinations and had been discussed in clinocipathological conference (CPC) to narrow down the diagnosis. Result:After serial examinations, the diagnosis of Langerhans Cell Histiocytosis was confirmed and chemotherapy was initiated. And after 6 cycles of chemotherapy, with 1-week interval of each therapy, the clinical appearance of this patient significantly improved. Conclusion:Despite major advances in our understanding and management of LCH, it remains one of the most challenging diagnoses for the orthopedic surgeon. By doing a comprehensive examination, it is possible to narrowing down the diagnosis and planning the accurate treatment.

SUBMITTER: Kamal AF

PROVIDER: S-EPMC6702438 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature

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Diagnosis and treatment of Langerhans Cell Histiocytosis with bone lesion in pediatric patient: A case report.

Kamal Achmad Fauzi AF Luthfi Andi Praja Wira Yudha APWY

Annals of medicine and surgery (2012) 20190802

<h4>Background</h4>Langerhans cell histiocytosis (LCH) is a rare group of disorders without a well understood etiology. Known formerly as histiocytosis X, the disease has a wide spectrum of clinical presentations, including eosinophilic granuloma (solitary bone lesion), diabetes insipidus, and exophthalmos. Many of these patients initially present to orthopaedic surgeons, and misdiagnosis is frequent.<h4>Methods</h4>We deliver a case of a 10-month-old boy who consulted to our department. Previou ...[more]

PMID: 31452877

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Project description:BackgroundNeurodegenerative Langerhans Cell Histiocytosis (ND-LCH) is a rare, unpredictable consequence that may devastate the quality of life of patients cured from LCH. We prospectively applied a multidisciplinary diagnostic work-up to early identify and follow-up patients with ND-LCH, with the ultimate goal of better determining the appropriate time for starting therapy.MethodsWe studied 27 children and young adults with either ND-LCH verified by structural magnetic resonance imaging (MRI) (group 1) or specific risk factors for (diabetes insipidus, craniofacial bone lesions), but no evidence of, neurodegenerative MRI changes (group 2). All patients underwent clinical, neurophysiological and MRI studies.ResultsSeventeen patients had MRI alterations typical for ND-LCH. Nine showed neurological impairment but only three were symptomatic; 11 had abnormal somatosensory evoked potentials (SEPs), and five had abnormal brainstem auditory evoked potentials (BAEPs). MR spectroscopy (MRS) showed reduced cerebellar NAA/Cr ratio in nine patients. SEPs showed sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV) for predicting ND-LCH of 70.6% (95%CI, 44.0%-89.7%), 100% (69.2%-100%), 100% (73.5%-100%), and 66.7% (38.4%-88.2%), respectively. Repeated investigations in group 1 revealed increasingly abnormal EP parameters, or neurological examination, or both, in nine of fifteen patients while MRI remained unchanged in all but one patient.ConclusionA targeted MRI study should be performed in all patients with risk factors for ND-LCH for early identification of demyelination. The combined use of SEPs and careful neurological evaluation may represent a valuable, low-cost, well-tolerated and easily available methodology to monitor patients from pre-symptomatic to symptomatic stages. We suggest a multidisciplinary protocol including clinical, MRS, and neurophysiological investigations to identify a population target for future therapeutic trials.

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Diagnosis and treatment of Langerhans Cell Histiocytosis with bone lesion in pediatric patient: A case report.

Publications

Diagnosis and treatment of Langerhans Cell Histiocytosis with bone lesion in pediatric patient: A case report.

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