Dr.Ch Venkat Kumar Raju, Dr.Suma Balan,(Paed Rheumato) Dr.Thadi Mohan;ORTHO), Dr.C Jayakumar
Department of Pediatrics, Pediatric rheumatology, Orthopaedics
Amrita Institute of medical sciences
Five and a half year-old presented with swelling on the right leg for 1 month. It started as a small reddish swelling, then gradually increasing in size.
No other significant past history
His development, diet, Immunisation history are normal
Auxologically he is normal
Clinical examination of the child, showed macrocephaly (56cm), Multiple café au laut macules all over the body, and a bony swelling on the right leg (3 x 3cm)in the the family grandfather and great grandfather
had similar skin lesions and facial neurofibromas
DD
Neurofibromatosis 1 or 2 with pseudo arthrosis
Neurofibromatosis 1
Neurofibramatosis 2
Schwannomatosis
Pseudoarthrosis
Osteosarcoma
Osteo chondromas
Haemarthrosis
After clinical and radiological examination, he was diagnosed to have right tibial sub-periosteal hemorrhage with calcified pseudo capsule
CT of the left tibia shows a pseudo capsule
He was operated and it was resected
During the admission genetic consult was given, and a Whole Exone sequencing was sent.
Annual surveillance for all children with NF1 — Consensus clinical guidelines from the American Academy of Pediatricsand the American College of Medical Genetics and Genomics are available . Regular visits at yearly intervals should include:
●Physical examination :
•Examine skin for new neurofibromas, signs of plexiform neurofibromas (PNs), or progression of existing lesions.
•Check blood pressure for signs of hypertension.
•Evaluate growth measurements including height, weight, and head circumference.
•Evaluate for skeletal changes, including scoliosis, vertebral changes, and limb abnormalities, particularly tibial dysplasia in young patients.
●A formal ophthalmologic examination, including visual screening.
●Assessment for precocious puberty. Evaluate older children for early development of secondary sexual characteristics or abnormal growth acceleration that may be associated with lesions of the pituitary from optic glioma involving the chiasm.
●Developmental assessment. Evaluate neurodevelopmentalprogress and evidence for attention-deficit disorder.
●Review of school progress.
●Monitoring of PNs. Affected persons and, for Pediatricpatients, their parents/caregivers should be questioned, particularly in adolescence, about any change in pain or growth pattern associated with a pre-existing PN and, if found, should be evaluated for possible malignant transformation of the neurofibroma.
Selumetinib, an oral inhibitor of mitogen activated protein kinase (MEK)1 and 2, has been demonstrated in children (>2yrs of age) with NF1 related inoperable plethora neurofibromas to be affective in inducing partial responses and reducing tumour progression
Take home message – NF is a genetic disorder causing tumours to form on nerve tissue, with three main types (NF1, NF2, schwannomatosis) that vary in symptoms and severity. While there is no cure, management focuses on symptom relief and multidisciplinary care to improve quality of life