By Dr: Samir M Al-Minshawy

Lecturer of Neuropediatrics

Minia University

Take Home Massage(s) Pain may be a gift

Invest your sympathy

Trust in yours

Documentation (Reporting) is A must

Case presentation History Taking:

A 3 years-old right-handed boy from Mallawy, Minia presented with insidious intermittent attacks of bilateral intense pain, warmth and flushing of feet, each lasting minutes to hours.

Age of onset was 2 years.

Symptoms:

Symmetrical

Localized to feet and never extended proximally beyond ankles

Precipitated with exercise and/or warm temperature exposure

Abated by cooling measures like cold water.

No response to ibuprofen (15mg/kg/dose three times a day) for 2 to 3 weeks

A partial response to cetirizine hydrochloride(2.5mg/kg/once daily).

Symptoms aggravated when stopped for 1 month as a test and relieved with restart

Frequency and severity of attacks were reduced with exposing to cold air (fan) during an attack

No history of similar conditions in his family or drug intake before the precipitation of the attacks.

Physical examinations during multiple visits:

Looks well with no manifestations of acute illness.

Normal vital signs; no pallor, jaundice or cyanosis

No organomegaly or lymphadenopathies

Feet appeared red and warm.

Investigations CBC with differential and HB electropheresis Serum immunoglobulin E (IgE) titre Serum cholesterol and triglycerides Serum urea and serum creatinine Liver enzymes (alanine aminotransferase and aspartate

aminotransferase Serum uric acid Urine analysis and stool analysis. Fasting and 2 hours post-prandial blood glucose levels. X-ray of bones and a Doppler of arteries of both lower limbs Nerve conduction velocities of both peroneal nerves Bone marrow biopsy Pelvic and abdominal sonography Brain CT

All were normal. Negative antistreptolysin O titre and autoimmune pannel Genetic study was expensive

A skin biopsy showing numerous telangiectatic blood vesselsin the capillary dermis associated with sparse perivascularmononuclear cell infiltrate and some vessels showed swellingof the endothelial lining. Intimal thickening and thrombiwere lacking.

Written informed consent was obtained from the

child’s father for performing investigations, publication

and for any accompanying images.

Pain Syndromes

الرجالإيالماً من دموع شدّ أدموع األطفال زيادةمى

Pain Syndromes

Fibromyalgia

Complex Regional Pain Syndromes ( Reflex Sympathetic Dystrophy)

Erythromelalgia

Chronic Fatigue Syndrome

Growing Pains

Abuse

Munchausen Syndrome by proxy

Others

Erythromelalgia

In 1878, Mitchell (American physician and writer )described andnamed ‘erythromelalgia’; redness (erythros) and pain (algos)involving the extremities (melos).

EM (red neuralgia) is a rare neurovascular peripheral painsyndrome of which the etiology, pathogenesis, diagnosis andmanagement are controversial and ambiguous.

It seems to consist of neuropathological and microvascularalterations

The incidence is 2.5 to 3.3 per million per year with male-to-female ratio of 1:3. Most cases occurring in the fifth and sixthdecades; the majority of cases were not inherited and thatprogress of the disease is variable.

It is a disorder in which blood vessels are episodicallyblocked, become hyperemic and inflamed with burning painand skin redness. The attacks are triggered by heat, pressure,mild activity, exertion, insomnia or stress.

Characterized by episodic erythema, warmth and intenseburning pain, commonly involves the extremities. Ulceration,peeling of skin over with necrosis and gangrene which can leadto amputation.

May be primary (idiopathic) or secondary

May be secondary to serious disorders which should beexcluded in each case (Buttaci CJ: 2006)

The exact pathological mechanism is unknown, severaltheories have been proposed especially vasculopathy and/orneuropathy.

The neuropathology of primary erythromelalgia arise fromhyperexcitability of C-fibers in the dorsal root ganglionwhich results in the severe burning pain with microvascularalterations in the cutaneous vascular tone. These changes isdue to mutation of the sodium channel NaV1.7.

Kim et al. reported mutations in the SCN9A gene, whichencodes the Nav1.7 sodium channel, in patients with primaryfamilial EM.

Dib-Hajj et al. demonstrated another F1449V mutation in theNav1.7 channel

Till now, no confirmatory diagnostic test and the diagnosis isbased on taking a careful history and physical examination duringthe episodes.

Erythromelalgia is a difficult condition to diagnose as there are nospecific tests available. However, reduced capillary density hasbeen observed microscopically during flaring with reducedcapillary perfusion . Another test that can be done is to have thepatient elevate their legs, and note the reversal(from red to pale)in skin color. Other tests including quantitative sensory nervetesting, laser evoked potentials, sweat testing and epidermalsensory nerve fiber density test(which is an objective test for smallfiber sensory neuropathy

It can lead to significant long-term morbidity.

EM in the pediatric population is associated with substantialmorbidity and, sometimes, death.

No reliable treatment has been established

Cook-Norris RH, Tollefson MM, Cruz-Inigo AE, Sandroni P, Davis MD, Davis DM: Pediatric erythromelalgia: a retrospective review of 32 cases evaluated at Mayo clinic over a 37-year period. J Am Acad Dermatol 2011, 26:.

Neuropathy hypothesis

Association with Astrocytoma

Antiepileptic Medication

Normal CBC with a differential count and bonemarrow examination excluded myeloproliferativedisorders, systemic mastocytosis, other hematologicaldisorders which may explain the symptomatology ofthe child including myelodysplastic syndrome, andthrombotic and immunologic thrombocytopenicpurpuras. Hemoglobin electrophoresis was done forthe exclusion of chronic hemolytic anemias, especiallysickle cell anemia.

EM may be secondary to connective tissue disorders,such as rheumatoid arthritis, SLE, Sj ِ gren’s syndromeand vasculitis, but the clinical presentation and labworkup excluded them as autoimmune panelincluding CBC and ESR, negative rheumatoid factor,and antinuclear, anti- Smith and anti-deoxyribonucleic acid (DNA) antibodies was normal.

There was no X-ray evidence of calcified arteries inlower limbs. Normal blood pressure, serum cholesteroland triglycerides levels, blood flow of both lower limbsthrough the Doppler which ruled out EM-likesyndromes such as Raynaud’s syndrome and Buerger’sdisease.

Results of a pelvic and abdominal sonography andbrain CT, which were done to exclude oncologic causesespecially astrocytoma, were normal.

Effective treatment is still unknown as shown

Avoidance of trigger factors.

Local measures include cooling or elevating the extremity but icecan lead to skin necrosis and ulceration.

Medications such as propranolol, carbamazepine, gabapentin,tricyclic antidepressants, sodium nitroprusside, calcium channelblockers and intravenous lidocaine and oral mexiletine had somesymptomatic benefits in a few cases and mainly in adults not inchildren.

Antihistamines are often overlooked, but two cases respod tocyproheptadine and three cases to pizotifen.

About 40% of users of sedating antihistamines obtain modestimprovement in their EM, whereas 60% do not obtainimprovement.

Regarding the non-sedating antihistaminic, cetirizinehydrochloride, no improvement was observed in previous reportswhich is in contradiction to our case in spite of normal serum IgEtitre.

Our patient

The first and only ( to date) case reported in Egypt

With the earliest age of presentation

Responding to new line of treatment

Take Home Massage(s) Pain may be a gift

Invest your sympathy

Trust in yours

Documentation (Reporting) is A must

ا مغربو شرقاأفض بركات السلم وحدهاالطفولةو يا رّب من أجل

بامذنكانإنأحببه و و كفورا يكنو ردّ األذى عن كّل شعب و إن

با أعشالرمل إذا غّردت في موحش إنّهاو صن ضحكة األطفال يا رّب

بدوي الجبل/ للشاعر السوري