Journal of pediatric neurology最新文献

{"title":"Cerebrovascular Complications in Pediatric Patients with COVID-19 Infection","authors":"T. A. Chaudhry, F. Palabiyik, S.J. Moum","doi":"10.1055/s-0042-1751265","DOIUrl":"https://doi.org/10.1055/s-0042-1751265","url":null,"abstract":"Since the onset of the coronavirus disease 2019 pandemic, a variety of neurological manifestations of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) have been reported in patients, of which one of the most concerning is stroke. This review aims to summarize the current literature and evolving understanding of pediatric cerebrovascular complications in the setting of SARS-CoV-2.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"118 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2022-08-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87669467","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Coronavirus Disease 2019-Associated Cerebral Mucormycosis in an Immunocompetent Child","authors":"D. Nagabushana, V. Samaga, S. Shenoy, Shabari Girishan, H. V. Reddy, Somashekhar Ar","doi":"10.1055/s-0042-1760254","DOIUrl":"https://doi.org/10.1055/s-0042-1760254","url":null,"abstract":"Abstract Mucormycosis is a rare opportunistic fungal infection observed in immunocompromised individuals or in those with uncontrolled diabetes mellitus. During the coronavirus disease 2019 (COVID-19) pandemic, there has been a steep increase in the incidence of mucormycosis among adults. However, the infection is extremely rare in the pediatric population, and its occurrence post-COVID-19 infection has been reported in very few cases. We present a case of cerebral mucormycosis in a 6-year-old immunocompetent girl that was histopathologically confirmed by stereotactic brain biopsy. The fungal infection occurred following asymptomatic COVID-19 infection. This report describes the diagnostic journey and management. It highlights the unusual presentation of cerebral mucormycosis in our case and the role of posaconazole in the successful treatment.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"34 1","pages":"399 - 403"},"PeriodicalIF":0.2,"publicationDate":"2022-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"83819193","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Limb Hypertrophy—An Uncommon Presentation Yet a Common Link among Neurocutaneous Syndromes: A Series of Three Cases","authors":"A. Agrawal, A. Budania, L. Saini, S. Tiwari, Deepak Vedant, Benetta Benny","doi":"10.1055/s-0042-1760196","DOIUrl":"https://doi.org/10.1055/s-0042-1760196","url":null,"abstract":"Abstract Limb hypertrophy is an unusual presentation associated with neurocutaneous syndromes. The mechanism behind this presentation may vary from case to case. Here, we describe a case series of three different syndromes linked by a common clinical finding of limb hypertrophy.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"18 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2022-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84343166","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Recurrent Painful Ophthalmoplegic Neuropathy Mistaken for Oculomotor Schwannoma: A Case Report","authors":"D. Mahović, Matea Bračić, I. Jovanović, I. Gabrić","doi":"10.1055/s-0042-1760197","DOIUrl":"https://doi.org/10.1055/s-0042-1760197","url":null,"abstract":"Abstract Recurrent painful ophthalmoplegic neuropathy (RPON) is a headache disorder classified as a cranial neuropathy. It is characterized by episodes of unilateral headache followed by ipsilateral ophthalmoplegia due to ocular cranial nerve palsy. Symptoms usually subside spontaneously within weeks to months. RPON commonly occurs in childhood, though it is overlooked at times as a possible differential diagnosis. The pathophysiology of RPON is not entirely clear. Typical magnetic resonance imaging (MRI) findings in children include nerve thickening and gadolinium enhancement. However, these findings are not specific to this condition. Nerve thickening in RPON can resemble schwannomas, thereby causing a diagnostic dilemma. Here, we present a 13-year-old boy with a history of unilateral headaches associated with ipsilateral ptosis and diplopia. The first MRI indicated thickening and gadolinium enhancement of the right oculomotor nerve, which was interpreted as a schwannoma. However, his symptoms resolved after a few weeks and the follow-up MRI showed resolution of nerve changes. This clinical presentation was consistent with RPON. This case demonstrates the need for a careful follow-up of RPON patients.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"28 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2022-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82000602","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Salvation of the Prophet Yunus (Alayhi As-Salam), Swallowed by the Big Fish: A Message for Today's Physicians","authors":"H. Çaksen","doi":"10.1055/s-0042-1760195","DOIUrl":"https://doi.org/10.1055/s-0042-1760195","url":null,"abstract":"Yunus IbnMatta (referred to Jonas and Jonah in English) lived during the reign of the second Jeroboam (793–753 Before Christ), one of the kings of Israel. Hewas aMessenger of Allah sent to Nineveh, a city in Northern Iraq with a population of over a hundred thousand. However, the Prophet Yunus (Alayhi As-Salam [AS]) did not want to warn the people of Nineveh, who were the enemies of the Israelites. He disobeyed the Divine command and boarded a ship from Yafa (Jaffa) to go to Tarshish. When a big storm broke out at sea, theweights on the shipwere thrown into the sea. In an effort to understand who caused this disaster, lots were drawn among the passengers of the ship and the lottery was drawn to Yunus (AS). When Yunus (AS) was thrown into the sea, the storm subsided. By the order of Allah, a big fish swallowed him and Yunus (AS) remained in the stomach of the fish for three days and three nights. He prayed to Allah while he was in the stomach of the fish. Allah accepted his dua (supplication) and the fish vomited him onto the land.1 Herein, we discussed Yunus’s (AS) salvation from the stomach of the fish from the Islamic perspective to emphasize that the Quran also addresses today’s people including physicians with Yunus’s (AS) story. Surah Yunus, the tenth Surah of the Quran, contains 109 ayats. In the Surah, the unity of Allah, Muhammad’s (Sallallahu Alayhi Wa Sallam) prophethood and belief in the hereafter are emphasized and examples of the denialist attitudes of past tribes are mentioned.2 The Quran says Yunus’s (AS) story as follows: So also was Yunus (AS) among those sent (by Us). When he ran away (like a slave from captivity) to the ship (fully) laden, He (agreed to) cast lots, and he was of the rebutted: Then the big fish did swallow him, and he had done acts worthy of blame. Had it not been that he (repented and) glorified Allah, He would certainly have remained inside thefish till the Day of Resurrection. But We cast him forth on the naked shore in a state of sickness, and We caused to grow, over him, a spreading plant of the gourd kind. And We sent him (on a mission) to a hundred thousand (men) or more. And they believed; so We permitted them to enjoy (their life) for a while.3 The dua of Yunus Ibn Matta (AS) is a most powerful dua, a most effective means for obtaining answer to prayer. The sea was stormy, the night turbulent and dark, and hope exhausted. But it was while he was in such a situation that his dua “There is no god but Thou: glory toThee: I was indeed wrong!”4 acted for him as a swift means of salvation. The secret of his dua’s power was this: In that situation all causes were suspended, for Yunus (AS) needed to save him one whose command should constrain the fish and the sea, and the night and the sky. The night, the sea, and the fish were united against him. Only onewhose commandmight subdue all three of these could bring him forth on the strand of salvation. Even if the entirety of creation had become his servants and he","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"2003 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2022-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82895549","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Embryology and Clinical Development of the Human Olfactory System","authors":"H. Sarnat, L. Flores‐Sarnat","doi":"10.1055/s-0042-1758471","DOIUrl":"https://doi.org/10.1055/s-0042-1758471","url":null,"abstract":"Abstract The olfactory system is unique as a special sensory system in its developmental neuroanatomy and function. Neonatal olfactory reflexes can be detected in the fetus from 30 weeks gestation and can be tested in term and preterm neonates and older children. Most efferent axons from the olfactory bulb terminate in the anterior olfactory nucleus within the olfactory tract, with secondary projections to the amygdala, hypothalamus, hippocampus, and entorhinal cortex (parahippocampal gyrus), with tertiary projections also to the insula and other cortical regions. The olfactory bulb and tract incorporate an intrinsic thalamic equivalent. The olfactory bulb may be primary in generating olfactory auras in some cases of temporal lobe epilepsy. Developmental malformations may involve the olfactory bulb and tract, isolated or as part of complex cerebral malformations and genetic syndromes. Primary neural tumors may arise in the olfactory bulb or nerve. Impaired olfaction occurs in neonatal hypoxic/ischemic and some metabolic encephalopathies. Loss of sense of smell are early symptoms in some neurodegenerative diseases and in some viral respiratory diseases including coronavirus disease 2019. Testing cranial nerve I is easy and reliable at all ages, and is recommended in selected neonates with suspected brain malformations or encephalopathy.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"110 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2022-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88203744","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Acute Disseminated Encephalomyelitis with Prefrontal Cortex Involvement in a 9-Year-Old Child after COVID-19 Infection: A Case Report","authors":"A. O. Balık, Esra Gurdal Kosem","doi":"10.1055/s-0042-1747964","DOIUrl":"https://doi.org/10.1055/s-0042-1747964","url":null,"abstract":"The aim of the study was to present the rare co-occurring radiological findings of a child presenting with acute disseminated encephalomyelitis (ADEM) with a spinal cord and prefrontal cortex involvement after coronavirus disease 2019 (COVID-19) illness. The patient, who had COVID-19 a few weeks earlier, presented with progressive weakness in the right upper and lower extremities. Neurological examination of the patient was performed, and cranial magnetic resonance imaging (MRI) was taken on the same day. Serum severe acute respiratory syndrome coronavirus immunoglobulin M antibody testing was positive. MRI of the brain parenchyma and thoracic spine revealed fluid-attenuated inversion recovery and T2-weighted hyperintense lesions. Additionally, mild contrast enhancement was observed in both the prefrontal cortexes. The patient was discharged 10 days later with complete clinical recovery. Unlike other post-COVID-19 ADEM cases presenting in the literature, prefrontal cortex involvement makes our case rare.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"14 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2022-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86972653","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hydroxocobalamin Treatment and Pediatric Migraine Disability Assessment Scale Scores","authors":"Senem Ayça, Ceren Dogan","doi":"10.1055/s-0042-1750796","DOIUrl":"https://doi.org/10.1055/s-0042-1750796","url":null,"abstract":"Migraine is a common neurologic disorder in children, especially in adolescents. It can affect the school performance, family, and social daily activities. The Pediatric Migraine Disability Assessment Scale (PedMIDAS) is commonly used in young patients. This study evaluated vitamin B12 deficiency in children with migraine and the effect of hydroxocobalamin treatment on PedMIDAS scores. The study group comprised patients with vitamin B12 deficiency and diagnosed migraine. The PedMIDAS questionnaire was conducted before and 3 months after hydroxocobalamin treatment. PedMIDAS scores were evaluated and compared before and after hydroxocobalamin treatment. The mean ± standard deviation of vitamin B12 level was 175.9 ± 21.3 pg/mL in children with migraine. The PedMIDAS scores were significantly lower after hydroxocobalamin treatment than before treatment (p < 0.001). These results indicated that hydroxocobalamin made a positive contribution to the mitigation of migraine symptoms in children and that treating vitamin B12 deficiency could be a useful option.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"1 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2022-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"83162349","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Reversible Splenial Lesion Syndrome and Multisystem Inflammatory Syndrome Findings in a Child with SARS-COV-2 Infection","authors":"Utku Gemici, M. Güngör, B. Kara, Y. Anık","doi":"10.1055/s-0042-1748676","DOIUrl":"https://doi.org/10.1055/s-0042-1748676","url":null,"abstract":"Reversible splenial lesion syndrome (RESLES) is a transient lesion in the splenium of the corpus callosum. Etiology includes infections, malignancies, drugs, metabolic disorders, trauma, etc. We reported radiological features of a child with RESLES and multisystem inflammatory syndrome (MIS-C) with severe acute respiratory syndrome COVID-19 (SARS-CoV-2) infection in a 11-year-old boy. Diagnosis of SARS COV-2 infection was based on the detection of antiSARS-CoV-2 IgG and IgM in his serum.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"135 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2022-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86299677","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Coffin–Siris Syndrome in a Patient with Hirschsprung's Disease—Expanding the Phenotype by Mutation ARID1B: A Case Report and Literature Review","authors":"L. Freitas, Lays S. Ribeiro, M. Duarte, M. O. D. Silva, Paula M. Ferreira","doi":"10.1055/s-0042-1756453","DOIUrl":"https://doi.org/10.1055/s-0042-1756453","url":null,"abstract":"Abstract Coffin–Siris syndrome (CSS) is a rare syndrome with autosomal dominant inheritance, and it is characterized by intellectual disability, hypotonia, aplasia/hypoplasia of the distal phalanx of fifth fingernail, feeding difficulties, growth restriction, short stature, speech delay, hirsutism/hypertrichosis, and thinning hair on the scalp. Hearing impairment has also been described in some patients. In this article, we describe the case of a male patient diagnosed with CSS who, at 15 days of life, underwent surgery for megacolon correction and a later intestinal biopsy revealed the affected segment compatible with Hirschsprung's disease (HSCR). This patient was found to have a variant in ARID1B (p. [Pro934Glnfs*5]) in a component of the BAF complex which plays an important role in regulating the expression and differentiation. In addition, it mediates responses to environmental signals resulting from an ATP-dependent chromatin remodeling complex. This case added a unique clinical characteristics and a rare genetic variant in the repertoire of CSS.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"85 1","pages":"384 - 387"},"PeriodicalIF":0.2,"publicationDate":"2022-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74539896","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}