arcoidosis in children is often missed because of
its myriad presentations and rarity. We present a child with sarcoidosis
who had recurrent facial palsy and multisystem involvement.
Case Report
An 8-year-old boy presented with itchy, erythematous
plaque like skin lesions involving the buttocks and extremities for 8
months. He was treated with topical steroids without significant
improvement. He had a past history of various illnesses starting from 3
years age. At 3 years, he had a left sided lower motor facial palsy
which resolved on oral steroids. He had 3 further episodes of facial
palsy at 4 years, 4.5 years and 6 years treated each time with short
courses of oral steroids. At 4 years of age he had a prolonged febrile
episode for 1.5 months associated with headache, vomiting and facial
palsy. Investigations at that time showed an ESR of 71, CRP 20 (normal
<6 mg/L), SGPT - 7 U/L, ANA negative, HIV negative. Mantoux was
positive, CXR showed bilateral infiltrates. His MRI brain was normal.
CSF examination had revealed 142 cells/cc, 90 lymphocytes, sugar 52 mg/dL,
and protein 65 mg/dL. CSF PCR for tuberculosis was negative. Family
history for tuberculosis was positive. He was treated with
antitubercular therapy for 1 year with initial 6 weeks of oral steroids
and made a good recovery. One month after starting anti-tubercular
therapy he developed leaking of clear fluid from the sacral region. MRI
spine revealed a hypointense track at S1-2 level extending from the
thecal sac up to the skin suggestive of dorsal dermal sinus. The sinus
tract was excised. Histopathology of the surgical specimen showed
fibrocollagenous tissue and granulation tissue with lymphocytic
infiltrates but no granulomas.
At presentation to us at 8 years, besides skin
lesions and a 3 cm hepatomegaly he had no other significant findings.
His blood pressure was normal and eye examination including slit lamp
for uveitis was normal. Additional history of effort intolerance,
significant hair loss and non-specific bony pains over the last 6 months
were elicited on directed questioning.
A skin biopsy revealed lichenoid granulomatous
infiltrates with small and medium sized granulomas located close to the
epidermis and in perifollicular location. These granulomas had
epitheloids cells, giant cells, surrounding lymphocytes and no caseation.
A diagnosis of granulomatous dermatitis either sarcoidosis or lichen
scrofulosum was considered.
Chest X-ray and a Mantoux test were normal.
Complete blood count and SGPT was normal limits. ESR was 46 mm FHR.
Angiotensin converting enzyme (ACE) levels was elevated 119U/L (normal
7-52). High resolution computed tomography (HRCT) of the chest showed
confluent areas of ground glass opacities in bilateral lung parenchyma
with mild diffuse interlobar interstitial septal thickening noted
bilaterally. Tiny calcifications were noted in the aortopulmonary region
with few enlarged bilateral hilar nodes measuring 1-1.2 cm, suggestive
of sarcoidosis. Serum creatinine, calcium and 25-hydroxy vitamin D
levels were normal.
A diagnosis of sarcoidosis was made and he was
started on oral steroids and hydroxychloroquine. His skin lesions,
dyspnea on exertion and non-specific body pains disappeared in a month
and scalp hair became more luxurious. His steroids are being slowly
tapered and he remains asymptomatic during follow over the past 6
months. His ACE levels are now normal.
Discussion
This child presented with a long history of over five
years with recurrent facial nerve palsy, aseptic meningitis,
nephrocalcinosis and skin lesions. A recent review reported the
incidence of sarcoidosis in children as 0.22–0.27 per 100,000
children/year [1]. From India isolated case reports and short case
series of pediatric sarcoidosis have been reported [2]. Sarcoidosis in
children is probably missed due to its indolent course and presentation
to different medical subspecialties for varying symptoms.
Clinical symptoms in sarcoidosis include fever,
weight loss, cough, arthritis, and erythema nodosum. In children, the
disease frequently involves the lungs, lymph nodes, eyes, skin, liver
and spleen [3]. In a study, in patients with sarcoidosis, 48% had
neurological symptoms and peripheral facial nerve palsy was the
commonest abnormality [4]. Renal involvement in sarcoidosis includes
nephrocalcinosis and interstitial nephritis.
Recurrent Bells palsy has been reported in 2-9% of
all cases. Other causes of recurrent facial palsy are underlying tumour,
Behchets syndrome, Lyme disease, hypertension, Ramsay Hunt syndrome,
Melkersson-Rosenthal syndrome, or familial occurrence [5].
The diagnosis of sarcoidosis is based on a compatible
clinical and/or radiological picture; histological evidence of
noncaseating granulomas and exclusion of other diseases. Close
differentials in this child include early onset sarcoidosis and Blau
syndrome, which are monogenic autoinflammatory syndromes. However, the
classic triad of arthritis, dermatitis and uveitis was incomplete in
this patient. Other differentials include granulomatosis with
polyangiitis. However, it is a disease of older age group, the renal
involvement is usually glomerulonephritis and not nephrocalcinosis, and
ACE levels are not elevated in this condition. However, HRCT chest may
show characteristic findings [6]. Many diagnostic modalities are
available once sarcoidosis is suspected, including bronchoalveolar
levage and Fibreoptic bronchoscopy [7]. Serum ACE is useful in
monitoring the course of disease.
In case of steroid toxicity or steroid resistant
disease, immunosuppresive agents like methotrexate and
hydroxychloroquine have been used with some success [8]. A monoclonal
antibody against TNF alpha, infliximab, and a combination of infliximab
and mycophenolate mofetil have been recently used to treat those
resistant to steroids [9]. Multiorgan and CNS involvement is associated
with a poor prognosis while facial nerve palsy has been reported to
carry a good prognosis [10]. In conclusion, sarcoidosis must be
considered in a child with recurrent facial nerve palsy especially in
the setting of multi-organ involvement.
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