Acute disseminated encephalomyelitis in a child with Griscelli syndrome
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Tarih
2009
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info:eu-repo/semantics/openAccess
Özet
Griselli sendromu (GS) (MIM 214450) parsiyel albinizm, açık-gri renkli saçlar, tekrarlayan enfeksiyonlar ile karakterizie nadir görülen ve otozomal resesif geçiş gösteren bir hastalıktır. Bu hastalarda hücresel immune yetmezlik ile birlikte değişik oranda nörolojik semptomlar da görülebilir. Akut dissemine ensefalomiyelit (ADEM) ise immune sistem aracılıklı oluşan ve monofazik seyir gösteren bir hastalıktır. Görüntüleme çalışmaları yapıldığında, santral sinir sisteminde multifokal demiyelinize alanlara rastlanır. Burada Griselli sendromu tanısı ile izlenen ve takibinde ADEM gelişen 3.5 yaşında bir kız olgu sunulmuştur. Altı aylık iken Griselli sendromu tanısı alan hasta, 4 gün önce başlayan ataksi, yürüme bozukluğu ve uykuya eğilim şikayeti ile polikliniğimize başvurdu. Fizik muayenesinde derin tendon refleklekslerinin arttığı, alt ekstremitelerde kas gücü kaybı olduğu (3/5) ve iki taraflı Babinski işareti ve Aşil klonusunun pozitifleştiği tesbit edildi. Hastanın tam kan sayımı, biyokimyasal analizleri, serum fibrinojen düzeyi ve kemik iliği incelemesi normaldi. Beyin omirilik sıvısı (BOS) incelemesinde protein düzeyinde hafif artış dışında bir anormallik y yoktu. Beyin ve omiriliğin manyetik resonans görüntülemesi (MRI) sonucunda beyin, beyin sapı, beyincik ve omirilikte özellikle ak maddeyi tutan multifokal hiperintens alanlar tespit edildi. Hastalığın monofazik seyri ve tipik MRI bulguları sonucunda hastaya ADEM tanısı konuldu. Yüksek doz steroid ve intravenöz immünglobulin tedavisine rağmen hasta tedavinin 7. gününde öldü. Literatürde ADEM ve Griselli sendromu birlikteliği ile ilgili herhangi bir bilgiye rastlanmamaktadır. Bu sebeple, Griselli sendromu tanısı alan olgularda, nörolojik semptomlar geliştiğinde ADEM’in de akılda bulundurulması gerektiğine inanıyoruz.
Griscelli syndrome (GS) (MIM 214450) is a rare autosomal recessive genetic disorder characterized by partial albinism with silvery gray hair, recurrent infections, cellular immunodeficiency and neurologi- cal abnormalities. Acute disseminated encephalomyelitis (ADEM) is a monophasic, immune-mediated disorder that produces multifocal demyelinating lesions within the central nervous system. We report a three years and six months old girl patient with GS who presented ADEM. GS was diagnosed when she was six months old. She was admitted to hospital because of ataxia, gait disturbance and somnolence for four days. The physical examination revealed hyperreactive deep tendon reflexes, lower limb power was grade 3/5, bilaterally positive Achilles’ clonus and Babinsky’s sign. Laboratory investigations including complete blood cell count, serum biochemistry analysis, fibrinogen level and bone marrow examination were all within normal limits. The cerebrospinal fluid showed no pleocytosis with increased protein level. Brain and spinal magnetic resonance imaging (MRI) revealed multifocal abnormal high-signal intensity mainly in the white matter of the cerebellum, brainstem and spinal cord as well as in the cerebrum. The typical MRI findings and an acute monophasic clinical course of this case led to a diagnosis of ADEM. Patient was treated with high dose corticosteroids, but she was died in seventh days of the therapy. ADEM and GS association has not been reported previously to the best of our knowledge. ADEM also should be mind when a child with GS was encountered neurological findings.
Griscelli syndrome (GS) (MIM 214450) is a rare autosomal recessive genetic disorder characterized by partial albinism with silvery gray hair, recurrent infections, cellular immunodeficiency and neurologi- cal abnormalities. Acute disseminated encephalomyelitis (ADEM) is a monophasic, immune-mediated disorder that produces multifocal demyelinating lesions within the central nervous system. We report a three years and six months old girl patient with GS who presented ADEM. GS was diagnosed when she was six months old. She was admitted to hospital because of ataxia, gait disturbance and somnolence for four days. The physical examination revealed hyperreactive deep tendon reflexes, lower limb power was grade 3/5, bilaterally positive Achilles’ clonus and Babinsky’s sign. Laboratory investigations including complete blood cell count, serum biochemistry analysis, fibrinogen level and bone marrow examination were all within normal limits. The cerebrospinal fluid showed no pleocytosis with increased protein level. Brain and spinal magnetic resonance imaging (MRI) revealed multifocal abnormal high-signal intensity mainly in the white matter of the cerebellum, brainstem and spinal cord as well as in the cerebrum. The typical MRI findings and an acute monophasic clinical course of this case led to a diagnosis of ADEM. Patient was treated with high dose corticosteroids, but she was died in seventh days of the therapy. ADEM and GS association has not been reported previously to the best of our knowledge. ADEM also should be mind when a child with GS was encountered neurological findings.
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