- Email: [email protected]
P311 – 1500 Germ cell tumor presenting like Bell palsy
E U R O P E A N JO U R N A L O F PAEDIATRIC N E U R O L O G Y
describe a first case of gliomatosis cerebli histologically proven as PNET. Case report: A Japanese 10-year-old girl was admitted to our hospital because of recurrent complex partial seizures. She was previously a healthy girl and family history was unremarkable. Brain MRI showed diffuse T2 high intensity areas in left frontal and temporal lobes with partially enhancement. Biopsy was performed two months later, and pathological diagnosis was anaplastic astrocytoma at that time. We then started oral temozolomide and radiation therapies. However, nine months later the tumor size became enlarged and brain edema was deteriorated to the coma state of the patient. To reduce the mass volume, surgical operation was performed and tumor sample was taken to decide the precise tumor classification. The final pathological diagnosis at the operation was PNET. After the operation she received three courses of carboplatin and etoposide therapies but another mass appeared. She received ifosfamide, carboplatin, and etoposide therapies, but the tumor became enlarged. At fifteen months since first symptoms appeared, she died because of the tumor enlargement causing to brain stem compression. Discussion: To our knowledge, this is the first report of gliomatosis cerebli caused by histologically proven as PNET. The reason why this tumor demonstrated the diffuse extension like gliomatosis cerebli remains to be elucidated, but in childhood such malignancy progression should be kept in mind especially in PNET. Although the therapy in gliomatosis cerebli has not been well established, early biopsy or repeated biopsy is critical to decide appropriate chemotherapy and may improve the prognosis in children.
P311 - 1500 Germ cell tumor presenting like Bell palsy Erol I, Ozkale Y, Yazıcı N, Saygi S, Demir S. Baskent University Faculty of Medicine, Department of Pediatrics, Neurology Division, Adana Teaching and Medical Research Center, Turkey – [email protected] Introduction: Causes of peripheral facial nerve palsy (PFNP.) in children include trauma, infection, congenital anomalies, systemic disease, malignancy, middle ear surgery, and idiopathic reasons. Malignancy is one of the rare causes of facial palsy in childhood. In this case study, we present an infant with a germ cell tumor who initially presented with unilateral PFNP and normal brain and internal acustic MRI at admission. Case: A 2-month-old-girl with unremarkable medical history presented with right sided PFNP. Upon examination, both her vital signs and physical examination were normal except for right sided PFNP grade 4 House-Brackmann scale. On neurological examination, the other cranial nerve functions were normal, and no signs of meningitis were detected. Laboratory analyses revealed normal blood leukocyte count serum C-reactive protein and erythrocyte sedimentation rate. Viral and Lyme serology were normal. Neither computed tomography nor magnetic resonance imaging (MRI) of brain and internal acustic canal revealed any mass lesion. She was diagnosed with idiopathic PFNP and was administered steroid treatment. Two months following the first admission, she presented with new neurologic findings, with head tilting to the right and bilateral sixth nerve palsy. However, fundoscopic evaluation revealed no papil edema. MRI scans showed a heterogenius mass adjacent to the inner ear structures, reaching to the internal acoustic canal at the right temporal fossa. Histological examination of the tumor revealed malignant atypical teratoid tumor with no rhabdoid differentiation.The patient was treated for malignant teratoma with adjuvant chemotherapy. The patient presently remains under treatment. Conclusion: malignancy is rare but should be considered in the differential diagnosis of unilateral peripheral facial nerve palsy, particularly in the infant population. In the present study, the attention of pediatricians and pediatric neurologists to
17s (2013) S1 – S149
S139
the importance of a high level of suspicion for this diagnosis is warranted, even when initial imaging results are normal.
P312 - 2027 Seronegative myasthenia gravis in an adolescent after curative treatment of B-cell lymphoma Maras H, Uysal NC, Imal M, Mulayim S, Kara B. Kocaeli University Medical Faculty, Department of Pediatrics, Division of Child Neurology, Kocaeli, Turkey – [email protected] Myasthenia gravis is an autoimmune disease mediated by antibodies to acetylcholine reseptors (AchRs) or muscle specific kinase (MuSK). The relationship between myasthenia gravis and thymoma is well recognized, but the association of myasthenia and other malignancies has not been well known. In the literature, there are some case reports about the relation of lymphoma and other lympoproliferative disorders with myasthenia gravis. Myasthenia gravis may be a part of the paraneoplastic syndrome in a synchronous fashion with lymphoma, but it may occur after the therapy of lymphoma as a non-synchronous fashion. Genetic factors may play a role for the pathogenesis of nonsynchronous myasthenia gravis in lymphoid malignancies, but also perturbations in the immune mechanisms that normally prevent the emergence of autoimmunity. In this presentation, we want to discuss the relationship between myasthenia gravis and lymphoid malignancies, according to a 15-year old boy. He was diagnosed as B-cell lymphoma and treated with complete cure 5 years ago. He presented with severe systemic and bulbar muscle involvement. Serologic tests for anti-AchR and anti-MuSK antibodies were negative. Electromyography revealed decremental responses at the orbicularis oculi and ala nasi muscles. Residual tumour investigation was negative. Myasthenic symptoms could be controlled with oral prednisolone and intravenous immunoglobulin therapies.
Sleep P313 - 2070 Sleep evaluation in a patient with chromosomal disorder duplication (17) p11.2 Sendon CS, Chocano JF, Sendon PM, Chocano E. Eastern Virginia Medical School and Children’s Hospital of The King’s Daughters, Norfolk, USA – [email protected] Introduction: The duplication 17p11.2 Syndrome is a contiguous gene syndrome. Potocki- Lupski Syndrome (PTLS) was the first reciprocal of a homologous recombination. Its reciprocal disease is Smith-Magenis Syndrome (SMS), in which the chromosome portion duplicated in PTLS is deleted altogether. Both syndromes are extremely rare, characterized by multiple congenital abnormalities and mental retardation. A key feature is autism spectrum disorder. Other features include infantile hypotonia, sleep apnea, structural cardiovascular anomalies, learning disabilities, attention-deficit disorder, obsessive- compulsive behaviors, malocclusions, short stature and failure to thrive. Disrupted sleep patterns are characteristics of SMS due to an inverted melatonin circadian rhythm. Case presentation: 3 years old African American male with a history of PTLS/SMS Syndrome, with developmental, speech, and motor delays. He has hearing loss and myopia. Mom referred that her son gets up and walk around during the night. A sleep study showed mild snoring, obstructive respiratory events, and few periodic leg movements. Patient fall asleep very quick but have awaken several times. He woke up at the last part of the night and he did not go back to sleep. Time in bed was 7.1 hours; total sleep time 6.2 hours; Sleep efficiency was 87.5%; Arousal index was 25.8; Stage 2 was
describe a first case of gliomatosis cerebli histologically proven as PNET. Case report: A Japanese 10-year-old girl was admitted to our hospital because of recurrent complex partial seizures. She was previously a healthy girl and family history was unremarkable. Brain MRI showed diffuse T2 high intensity areas in left frontal and temporal lobes with partially enhancement. Biopsy was performed two months later, and pathological diagnosis was anaplastic astrocytoma at that time. We then started oral temozolomide and radiation therapies. However, nine months later the tumor size became enlarged and brain edema was deteriorated to the coma state of the patient. To reduce the mass volume, surgical operation was performed and tumor sample was taken to decide the precise tumor classification. The final pathological diagnosis at the operation was PNET. After the operation she received three courses of carboplatin and etoposide therapies but another mass appeared. She received ifosfamide, carboplatin, and etoposide therapies, but the tumor became enlarged. At fifteen months since first symptoms appeared, she died because of the tumor enlargement causing to brain stem compression. Discussion: To our knowledge, this is the first report of gliomatosis cerebli caused by histologically proven as PNET. The reason why this tumor demonstrated the diffuse extension like gliomatosis cerebli remains to be elucidated, but in childhood such malignancy progression should be kept in mind especially in PNET. Although the therapy in gliomatosis cerebli has not been well established, early biopsy or repeated biopsy is critical to decide appropriate chemotherapy and may improve the prognosis in children.
P311 - 1500 Germ cell tumor presenting like Bell palsy Erol I, Ozkale Y, Yazıcı N, Saygi S, Demir S. Baskent University Faculty of Medicine, Department of Pediatrics, Neurology Division, Adana Teaching and Medical Research Center, Turkey – [email protected] Introduction: Causes of peripheral facial nerve palsy (PFNP.) in children include trauma, infection, congenital anomalies, systemic disease, malignancy, middle ear surgery, and idiopathic reasons. Malignancy is one of the rare causes of facial palsy in childhood. In this case study, we present an infant with a germ cell tumor who initially presented with unilateral PFNP and normal brain and internal acustic MRI at admission. Case: A 2-month-old-girl with unremarkable medical history presented with right sided PFNP. Upon examination, both her vital signs and physical examination were normal except for right sided PFNP grade 4 House-Brackmann scale. On neurological examination, the other cranial nerve functions were normal, and no signs of meningitis were detected. Laboratory analyses revealed normal blood leukocyte count serum C-reactive protein and erythrocyte sedimentation rate. Viral and Lyme serology were normal. Neither computed tomography nor magnetic resonance imaging (MRI) of brain and internal acustic canal revealed any mass lesion. She was diagnosed with idiopathic PFNP and was administered steroid treatment. Two months following the first admission, she presented with new neurologic findings, with head tilting to the right and bilateral sixth nerve palsy. However, fundoscopic evaluation revealed no papil edema. MRI scans showed a heterogenius mass adjacent to the inner ear structures, reaching to the internal acoustic canal at the right temporal fossa. Histological examination of the tumor revealed malignant atypical teratoid tumor with no rhabdoid differentiation.The patient was treated for malignant teratoma with adjuvant chemotherapy. The patient presently remains under treatment. Conclusion: malignancy is rare but should be considered in the differential diagnosis of unilateral peripheral facial nerve palsy, particularly in the infant population. In the present study, the attention of pediatricians and pediatric neurologists to
17s (2013) S1 – S149
S139
the importance of a high level of suspicion for this diagnosis is warranted, even when initial imaging results are normal.
P312 - 2027 Seronegative myasthenia gravis in an adolescent after curative treatment of B-cell lymphoma Maras H, Uysal NC, Imal M, Mulayim S, Kara B. Kocaeli University Medical Faculty, Department of Pediatrics, Division of Child Neurology, Kocaeli, Turkey – [email protected] Myasthenia gravis is an autoimmune disease mediated by antibodies to acetylcholine reseptors (AchRs) or muscle specific kinase (MuSK). The relationship between myasthenia gravis and thymoma is well recognized, but the association of myasthenia and other malignancies has not been well known. In the literature, there are some case reports about the relation of lymphoma and other lympoproliferative disorders with myasthenia gravis. Myasthenia gravis may be a part of the paraneoplastic syndrome in a synchronous fashion with lymphoma, but it may occur after the therapy of lymphoma as a non-synchronous fashion. Genetic factors may play a role for the pathogenesis of nonsynchronous myasthenia gravis in lymphoid malignancies, but also perturbations in the immune mechanisms that normally prevent the emergence of autoimmunity. In this presentation, we want to discuss the relationship between myasthenia gravis and lymphoid malignancies, according to a 15-year old boy. He was diagnosed as B-cell lymphoma and treated with complete cure 5 years ago. He presented with severe systemic and bulbar muscle involvement. Serologic tests for anti-AchR and anti-MuSK antibodies were negative. Electromyography revealed decremental responses at the orbicularis oculi and ala nasi muscles. Residual tumour investigation was negative. Myasthenic symptoms could be controlled with oral prednisolone and intravenous immunoglobulin therapies.
Sleep P313 - 2070 Sleep evaluation in a patient with chromosomal disorder duplication (17) p11.2 Sendon CS, Chocano JF, Sendon PM, Chocano E. Eastern Virginia Medical School and Children’s Hospital of The King’s Daughters, Norfolk, USA – [email protected] Introduction: The duplication 17p11.2 Syndrome is a contiguous gene syndrome. Potocki- Lupski Syndrome (PTLS) was the first reciprocal of a homologous recombination. Its reciprocal disease is Smith-Magenis Syndrome (SMS), in which the chromosome portion duplicated in PTLS is deleted altogether. Both syndromes are extremely rare, characterized by multiple congenital abnormalities and mental retardation. A key feature is autism spectrum disorder. Other features include infantile hypotonia, sleep apnea, structural cardiovascular anomalies, learning disabilities, attention-deficit disorder, obsessive- compulsive behaviors, malocclusions, short stature and failure to thrive. Disrupted sleep patterns are characteristics of SMS due to an inverted melatonin circadian rhythm. Case presentation: 3 years old African American male with a history of PTLS/SMS Syndrome, with developmental, speech, and motor delays. He has hearing loss and myopia. Mom referred that her son gets up and walk around during the night. A sleep study showed mild snoring, obstructive respiratory events, and few periodic leg movements. Patient fall asleep very quick but have awaken several times. He woke up at the last part of the night and he did not go back to sleep. Time in bed was 7.1 hours; total sleep time 6.2 hours; Sleep efficiency was 87.5%; Arousal index was 25.8; Stage 2 was