Dr Theresa, Dr Bhanu Vikraman Pillai(ped gastro), Dr Rema (Paed Haematology)
Dr C Jayakumar, Amrita Institute of medical sciences, Kochi
One year and eight month old male boy presented with history of constipation since 1 year. Since April 2024 , he had loss of appetite, increased water intake , persistent crying and abdominal distension.
Mother also noticed multiple scaly lesions and reddish rashes over the face, neck and diaper area in last 3-4 months
Past history: He is the only child of non- consanguineous marriage born term
He was on ayurvedic treatment in between
At admission, the child was irritable, icteric tachypnoeic with BP of 100/60mmhg, PR:140/min.
Systemic examination revealed massive hepatosplenomegaly with other systems within normal limit.
Initial labs did showed
Hb: 7.2mg/dl, TC:22K/Ul, N:70% , Platelet: 640
Procal showed rising trends with initial count being 12.07 which later increased to 29.07 and CRP of 70
TSB-6.16, DSB-4.98
GGT:721, LDH: 200, Serum ferritin: 360
Peripheral smear: Normocytic normochromic anemia with neutrophilic leucocytosis and thrombocytosis.
The child was started on supportives
The child had fever spikes during hospital stay and he was on antibiotics
USG abdomen did showed features of chronic liver disease with extensive periportal edema and echogenicity.
No biliary dilatation with patent portal vein branches at present and trace ascites.
USG guided Liver biopsy showed morphological features of biliary obstruction type pattern
Heavy metals(arsenic, antimony, bismuth, mercury and lead) was excluded toxicology screening
Bone marrow aspiration showed particulate cellular marrow which showed trilineage maturation with prominent megakaryocytes
Bone marrow biopsy showed normocellular marrow with trilineage haematopoiesis and increased megakaryocytes
Karyotyping and flow cytometry were normal.
Fever spikes were persisting with high CRP and procalcitonin with sterile blood culture Hence, CMV DNA PCR quantitative study was done along with RVP which were normal.
Echo did was normal
ANA IFA – positive 2+ mixed pattern( finespeckled and cytoplasmic)
The child was further planned for skin biopsy with IHC in which cells were positive for CD1a and S100 and CD 68 were positive in few cells
Impression: Features are consistent with Langerhans cells histiocytosis.
Whole body FDG PET CT was done which showed diffused abnormal increased FDG uptake was noted in enlarged liver with no definite focal lesions.
Diffuse minimal abnormal increased FDG uptake noted in marrow of skeleton -likely reactive
Abnormal increased FDG uptake in adenoids- likely infective inflammatory,in bilateral level II lymph nodes and minimal abnormal increased FDG uptake in right axillary lymph node and mediastinal para aortic lymph nodes
The child was started on oral steroids followed chemotherapy with Vinblastine when his bilirubin level started decreasing
The child tolerated chemotherapy well and was discharged with hemodynamically stable condition.
DISCUSSION:
Langerhans cell histiocytosis is a rare disorder characterized the abnormal accumulation of Langerhans cells.
In LCH, these cells multiply uncontrollably and can infiltrate and damage tissues and organs, leading to a wide variety of symptoms depending on organ involved.
This can affect any part of the body, but mainly bones, skin, lungs, liver, spleen and lymph nodes.
SYMPTOMS:
The symptoms of Langerhans Cell Histiocytosis (LCH) vary widely such as skin rash or recurrent otitis media with a mass involving the mastoid bone.
PATHOLOGY
Cells are functionally immature and do not effectively stimulate primary T cells via antigen presentation.
Cells express S-100(neural crest origin), CD1a, CD207(Langerin).
Histopathology of lesion will show langerhancells with characteristic COFFEY BEAN NUCLEUS .Electron microscopy may show characteristic tennis racket shaped rod known as BIRBECK granules
INVESTIGATION
CBC
LFT
Serum Electolytes
Imaging Studies:
X-rays: to evaluate bone lesions, particularly in cases of bone LCH.
Common sites include the skull, long bones, and ribs.
Ultrasound:
CT Scans: Provides detailed images of affected organs and lesions, helpful for staging and assessing extent of disease.
MRI: May be used for central nervous system involvement or to assess soft tissue lesions.
Biopsy:
Excisional or incisional biopsy of lesions (e.g., skin, bone, or lymph nodes) may be necessary to confirm the diagnosis. Histological examination shows characteristic Langerhans cells.
Bone Marrow Aspirate/Biopsy: If systemic involvement is suspected, evaluating bone marrow can help determine if there are infiltrative processes.
Pulmonary Function Tests: If there’s suspicion of lung involvement, particularly in older children or those with respiratory symptoms.
Endoscopy: If gastrointestinal involvement is suspected, endoscopic evaluation may be warranted.
Genetic Testing: In cases where there is an atypical presentation or if associated syndromes (like Cohen syndrome) are suspected, genetic testing may help in assessing the condition.
TREATMENT:
Standard regimen includes the combination of Vinblastine and Prednisone.
Observation: If the LCH is mild and not causing serious problems
Corticosteroids:
Chemotherapy: Vinblastine ,Methotrexate, Cladribine, Cytarabine, Etoposide etc
Surgery: If there are specific masses
Supportive Care: This includes managing symptoms and making sure the child is comfortable, which might involve physical therapy or other therapies as needed.
Follow-Up: Regular check-ups with the healthcare team are important to monitor how the child is doing and to adjust the treatment if necessary.