NEUROFIBROMATOSIS
► OUTLINE
► INTRODUCTION
► CASE SUMMARIES
► CLASSIFICATION
► CLINICAL FEATURES
► MANAGEMENT
► COMMENTARY
► CASE PRESENTATION
► CASE 1
► NAME: BAB
► AGE: 20yrs
► OCCUPATION: STUDENT
► TRIBE:KANURI
► PC: Multiple Subcutaneous Swellings
► HPC
► 10yr hx of progressive subcutaneous
swelling, painless, non-itchy
► Swelling on Nose & Lt upper arm,
progressed more rapidly than others
► No hx of Trauma, hearing or visual
impairment, seizures.
► No loss of function in any limb, no +ve
family hx.
► Not known hypertensive or diabetic.
► O/E
► A young man, not in any form of distress,
► Multiple café au lait spots & axillary freckles
► Multiple nodules with the larger ones on
the Lt upper arm & the tip of the nose measuring 8x10cm & 6x8cm
respectively
► With a cord like consistency
► No PLND
► O/E contd
► CNS –
No focal neurological deficit
► Chest –
Clinically clear
► ABD –
NAD
► DIAGNOSIS – Neurofibromatosis TypeI
► INVESTIGATIONS
► Tissue biopsy– Consistent with neurofibroma
► FBC & ESR, EUC, Urinalysis, Skull
X-ray- All within normal limit.
► TREATMENT
► Pt had excision of the large nodules and
rhinoplasty done.
► CASE 2
BIODATA.
► NAME-TZH
► AGE-12yrs
► OCCUPATION-STUDENT
► RESIDENCE-NGURU
► TRIBE-HAUSA
► RELIGION-MUSLIM
► HISTORY
► PC- Swelling on the Lt eye X 3yrs
► HPC- 3yr hx of painless progressive
swelling on the Lt eye. No similar swelling on other part of the body
► No hx of trauma to the eye
► No associated visual or hearing impairment
► No hx of seizures or functional loss in the
limbs. Positive family hx(mother had similar nodules)
► O/E
► A young girl not in any distress with
multiple café-au-lait spots.
► Status Localis- Obvious swelling on the Lt
eye measuring 3x4cm extending from upper eyelid to the angle of the eye. No
attachment to skin or underlying structures
► Tender pre-auricular nerve
► No detectable loss in vision
► O/E contd
► CNS-No focal neurological deficit
► CHEST- Clinically clear
► ABD- NAD
► DIAGNOSIS-Plexiform neurofibromatosis of
the trigeminal nerve.
► INVESTIGATIONS
► Tissue biopsy- Neurogenic hamartoma
consistent with neurofibromatosis.
► FBC & ESR, EUC, Urinalysis, skull
X-ray, within normal limit.
► TREATMENT
► Had excision biopsy
► Did well post-op & was discharged home.
► CLASSIFICATION
► Autosomal dominant disorder resulting from
an abnormality in neural crest differentiation and migration
► 2 major subtypes,namely;
► Type 1(peripheral
neurofibromatosis)-commoner,incidence of 1:4000 live births,linked to a gene on
chromosome 17
► Type 2(central
neurofibromatosis)-rare,incidence of 1:50000 live births,linked to a gene on
long arm of chromosome 22
►DIAGNOSTIC CRITERIA for NEUROFIBROMATOSIS 1
2 or more of the following:
► 6 or more café au lait macules>5mm in diameter in prepubertal
indviduals,>15mm in post pubertal
► 2 or more neurofibromas or 1 plexiform
neurofibroma
► Axillary or inguinal freckling
► Optic glioma
► 2 or more Lisch nodules
► A distinctive osseous lesion such as
sphenoid dysplasia,thining of long bone cortex, pseudoarthrosis,
► First degree relative with
neurofibromatosis 1
►DIAGNOSTIC CRITERIA FOR
NEUROFIBROMATOSIS-II
Any 1 of the following:
► Bilateral masses of the 8th
cranial nerve seen with appropriate imaging techniques
► A first degree relative with NF-2 and
either
§ Unilateral mass of the 8th
cranial nerve or
§ 2 of the following-neurofibroma,
meningioma, glioma, schwannoma,juvenile cataracts
►CLINICAL FEATURES
► Neurocutaneos disorder affecting nervous
system, skin, soft tissues and bones.
► History
§ Cutaneous discolouratin occurring 1st
3yrs of life
§ Multiple skin nodules occurring at puberty
§ Physical symptoms-pain, pathological
fractures, seizures, hearing or visual impairement, headaches.
► Physical examination
§ Café
au lait spots
§ Neurofibromas- Cutaneous, Subcutaneous
& Plexiform
-
Soft or firm
-
Brown, Pink or Skin coloured
§ Axillary/groin frecklings
§ Lisch nodules(iris hamartoma)
§ Bony involvement-
►Pseudoarthrosis
►Bowing of long bones
►Kyphoscoliosis
►Orbital defects e.g pulsating exopthalmos
due to sphenoid dysplasia
§ Neurologic Abnormalities
►Deafness
►Blindness
►Hydrocephalus
►Increased ICP
►Below average intelligence (25-40%)
►Mental Retardation (5-10%)
§ Endocrine Disorders
►Short stature & Growth abnormality
►Sexual Precocity (3-5%)
►Features of 2o
hyperparathyroidism & phaeocromocytoma
►DIFFERENTIALS:
§
McCune-Albright
syndrome: polyosteotic fibrous
dysplasia, precocious puberty, café
au lait spots & endocrinopathies
§Multiple Endocrine Neoplasia
§Onchocerca Nodules
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July 11, 2015
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