Abir Zioudi, Hanene Benrhouma, Maha Jamoussi, Thouraya Ben Younes, Zouhour Miladi, Hedia Klaa, Sonia Nagi, Brahim Tabarki, Ilhem Ben Youssef Turki, Ichraf Kraoua
{"title":"Biotinidase Deficiency: Report of a Tunisian Case With Neuromyelitis Optica-Like Presentation and Review of the Literature.","authors":"Abir Zioudi, Hanene Benrhouma, Maha Jamoussi, Thouraya Ben Younes, Zouhour Miladi, Hedia Klaa, Sonia Nagi, Brahim Tabarki, Ilhem Ben Youssef Turki, Ichraf Kraoua","doi":"10.1155/crnm/7003370","DOIUrl":"10.1155/crnm/7003370","url":null,"abstract":"<p><p>Biotinidase deficiency is a rare treatable metabolic disorder caused by biallelic mutations in the <i>BTD</i> gene. In the absence of neonatal screening and treatment, affected children develop typically optic atrophy, hypotonia, early onset seizures, developmental delay, and cutaneous manifestations. Some patients may have atypical presentations mimicking a demyelinating disorder of the central nervous system. We report on the first genetically confirmed Tunisian patient with biotinidase deficiency who presented initially with cutaneous manifestations misdiagnosed as dermatophytosis and subsequently with an opticospinal syndrome leading to the diagnosis of seronegative neuromyelitis optica spectrum disorder that was dramatically improved under biotin. We carry on a review of the literature of the previously reported pediatric cases with an opticospinal syndrome revealing biotinidase deficiency.</p>","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2025 ","pages":"7003370"},"PeriodicalIF":0.9,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11961292/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143763166","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Kyle N Kaneko, Pablo Read, John M Eaton, Yoshie Umemura, Justin L Hoskin
{"title":"Resolution of Refractory Status Epilepticus With Ketamine Without Intubation in a Patient With Stroke-Like Migraine Attacks After Radiation Therapy (SMART) Syndrome.","authors":"Kyle N Kaneko, Pablo Read, John M Eaton, Yoshie Umemura, Justin L Hoskin","doi":"10.1155/crnm/3203322","DOIUrl":"10.1155/crnm/3203322","url":null,"abstract":"<p><p>Stroke-like migraine attacks after radiation therapy (SMART) syndrome is an infrequently reported complication arising years after radiation therapy that manifests as a reversible syndrome marked by migraine-like headaches, focal neurologic signs, and/or seizures. Refractory status epilepticus (RSE) associated with SMART syndrome is rare and can be challenging to treat. Valproic acid has been reported to improve seizures in RSE in SMART syndrome in a few case reports and may be ideal for SMART syndrome, given its use in the treatment of migraines and seizures. Ketamine has been used in RSE and a few instances in SMART syndrome. Here, we present a case of refractory focal status epilepticus in a patient with SMART syndrome who was treated with ketamine, which resolved seizures without the need for intubation.</p>","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2025 ","pages":"3203322"},"PeriodicalIF":0.9,"publicationDate":"2025-02-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11824791/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143413469","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Parietal Meningocele Under the Scalp of a Fetus Diagnosed Based on Volume Contrast Imaging of Prenatal Three-Dimensional Ultrasound Data.","authors":"Akihiro Hasegawa, Masami Kono, Tokumasa Suemitsu, Yuki Ito, Tatsuya Hirotsu, Yuichiro Nonaka, Osamu Samura, Aikou Okamoto","doi":"10.1155/crnm/7401673","DOIUrl":"10.1155/crnm/7401673","url":null,"abstract":"<p><p>Determining the differential diagnosis of small scalp cysts identified on a fetus is difficult. In particular, many physicians have difficulty differentiating small meningoceles from small scalp cysts during the prenatal period. Volume contrast imaging increases contrast between tissues, thereby allowing an enhanced view of target structures. A 15 × 5 mm scalp cyst was identified on a fetus during a prenatal ultrasonography examination performed at 20 weeks of gestation. The cyst was not connected to the blood flow, and did not include the tissue of the brain parenchyma. Ventriculomegaly and other structural abnormalities were not observed. Based on these findings, we suspected a sinus pericranii or fetal epidermal cyst. The size of the fetal scalp cyst was stable, and the growth of the fetus remained normal until birth. The diagnosis of a small meningocele was confirmed postnatally, based on the results of a magnetic resonance imaging examination. Postnatal evaluation of offline volume contrast imaging of prenatal three-dimensional ultrasound data at 22 weeks of gestation revealed a skull bone defect beneath the cyst. Volume contrast imaging can facilitate the prenatal diagnosis of small meningoceles by detecting bone defects on the fetal head.</p>","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2025 ","pages":"7401673"},"PeriodicalIF":0.9,"publicationDate":"2025-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11735054/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143000980","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Sameen Ejaz, Rabia Nawaz, Fakeha Tariq, Ahmad Nawaz, Safia Bano, Ayesha Aslam, Fawad Khan, Zeeshan Ahmed, Aaqib Rashid, Sana Saqib
{"title":"Chronic Myeloid Leukemia Presenting With Bilateral Optic Neuropathy and Sensorineural Hearing Loss as the First Clinical Presentation: A Case Report.","authors":"Sameen Ejaz, Rabia Nawaz, Fakeha Tariq, Ahmad Nawaz, Safia Bano, Ayesha Aslam, Fawad Khan, Zeeshan Ahmed, Aaqib Rashid, Sana Saqib","doi":"10.1155/crnm/9371576","DOIUrl":"10.1155/crnm/9371576","url":null,"abstract":"<p><p>Chronic myeloid leukemia (CML) is a myeloproliferative disorder that commonly manifests in chronic, accelerated, or blast phase. Typically observed in individuals aged 60-65 years, CML is infrequently diagnosed in adolescents. The usual presentation in late adulthood involves nonspecific symptoms such as fever, fatigue, and weight loss, with rare reports of initial neurological involvement. A 17-year-old male presented with bilateral vision loss and profound hearing loss, alongside a medical history marked by fever, night sweats, and weight loss. A positive tuberculosis contact raised suspicions of tuberculous meningitis, while cervical and inguinal lymphadenopathy suggested the possibility of neurosarcoidosis. Despite clinical signs pointing toward a neurological cause, elevated white blood cell (WBC) count, a bone marrow biopsy, and the identification of BCR-ABL translocation through chromosomal analysis surprisingly revealed a diagnosis of CML in the chronic phase. This case underscores the importance of considering hematological malignancy as a differential in cases of multiple cranial neuropathies, especially if supported by systemic symptoms. Understanding the diverse presentations of CML is essential for clinicians to provide timely and appropriate interventions particularly in young patients where it could mimic other neurological disorders leading to diagnostic challenges and delay in treatment initiation.</p>","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2025 ","pages":"9371576"},"PeriodicalIF":0.9,"publicationDate":"2025-01-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11724030/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142969603","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Involvement of the Ipsilateral Tongue, an Intraoral Structure of Referred Pain due to Entrapment of the Greater Occipital Nerve.","authors":"Byung-Chul Son","doi":"10.1155/crnm/3993982","DOIUrl":"10.1155/crnm/3993982","url":null,"abstract":"<p><p>This study reports a rare case of referred pain in the trigeminal nerve distribution caused by entrapment of the greater occipital nerve (GON). Notably, the pain extended to the ipsilateral tongue, an unusual intraoral involvement. GON entrapment can lead to sensitization in secondary nociceptive neurons within the trigeminocervical complex (TCC), which receives signals from both trigeminal and occipital nerves, causing referred facial pain. A 55-year-old female presented with chronic left temporo-occipital pain, along with pain in her left periorbital area, ear canal, gum, and a 20-year history of atypical facial pain on her left tongue and lower lip. Following GON decompression, her temporo-occipital pain and facial symptoms improved, with a significant reduction in burning pain on her tongue and resolution of lip tingling. The TCC, comprising convergent inputs from trigeminal and occipital nerves, is the anatomical basis of referred craniofacial pain. Chronic GON entrapment can sensitize second-order neurons in the TCC and medullary dorsal horn, explaining this unusual referred pain to the intraoral structures.</p>","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2024 ","pages":"3993982"},"PeriodicalIF":0.9,"publicationDate":"2024-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11671630/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142902321","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Emily Barr, Justine Levesque, John Badir, Randall Dunston, Tamra Ranasinghe
{"title":"Unveiling the Uncommon: A Case Report of Horner's Syndrome as a Rare Glimpse Into Giant Cell Arteritis.","authors":"Emily Barr, Justine Levesque, John Badir, Randall Dunston, Tamra Ranasinghe","doi":"10.1155/crnm/2503963","DOIUrl":"10.1155/crnm/2503963","url":null,"abstract":"<p><p>Giant cell arteritis (GCA) is an inflammatory vasculitis affecting large and medium-sized arteries, leading to complications such as arterial dissection, blindness, and stroke. Rarely, GCA presents with Horner's syndrome due to sympathetic neuron involvement from arterial inflammation. This case report discusses an 82-year-old female with hypertension, atrial fibrillation, and arthritis who presented with a 24 h history of right eye ptosis, blurred vision, dizziness, and aching eye pain. She had a mild headache and tenderness over the right temporomandibular joint but no temporal artery tenderness. Examination revealed right eye ptosis and miosis, indicative of Horner's syndrome, with no other neurological deficits. Lab results showed elevated ESR (68 mm/h) and CRP (16 mg/L). MRI with contrast revealed mild to moderate stenosis and enhancement in bilateral MCAs and basilar artery with inflammation in the right distal extracranial ICA, suggesting an inflammatory process. The patient was started on prednisone 40 mg daily. A temporal artery biopsy confirmed GCA with characteristic histopathological findings. Her prednisone dosage was increased to 60 mg/day, and she was started on tocilizumab. This case underscores the need to consider GCA in patients with Horner's syndrome and the importance of vessel wall imaging, as early corticosteroid treatment can prevent complications like vision loss and stroke.</p>","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2024 ","pages":"2503963"},"PeriodicalIF":0.9,"publicationDate":"2024-12-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11651727/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142846170","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Nasser M AbuDujain, Abdulaziz Alshoumar, Awyshah M Alqahtani, Sohaila A Alshimemeri
{"title":"Cardiac Myxoma as a Mimicker of Cerebral Vasculitis: A Case Report.","authors":"Nasser M AbuDujain, Abdulaziz Alshoumar, Awyshah M Alqahtani, Sohaila A Alshimemeri","doi":"10.1155/crnm/8675344","DOIUrl":"10.1155/crnm/8675344","url":null,"abstract":"<p><p>Cardiac myxoma is considered the most common primary cardiac tumor and has been reported to cause different neurological complications through distinctive mechanisms, including pseudovasculitis. Herein, we present and review a case of a young male with a previous history of ischemic stroke who presented with multiple territorial ischemic insults in the presence of a presumed diagnosis of vasculitis. Once further workup was done, he was found to have a left atrial myxoma.</p>","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2024 ","pages":"8675344"},"PeriodicalIF":0.9,"publicationDate":"2024-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11625082/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142799613","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Debora González Garcia, Miguel Ángel González Casas, Martin Heisi Gómez Martínez
{"title":"Gliomatosis Cerebri Manifested as Parkinsonism Syndrome: A Case Report.","authors":"Debora González Garcia, Miguel Ángel González Casas, Martin Heisi Gómez Martínez","doi":"10.1155/crnm/3375867","DOIUrl":"10.1155/crnm/3375867","url":null,"abstract":"<p><p><b>Introduction:</b> Gliomatosis cerebri (GC) is a diffuse neoplastic process, whose presentation is extremely rare and lacks a characteristic clinical pattern. The objective of this case is to describe the clinical aspects of a patient with GC, in whom symptoms of parkinsonism and neurocognitive issues predominate. <b>Case Report:</b> A 78-year-old patient with no significant medical history was referred to the neurology consultation due to balance disturbances accompanied by head tremor. Symptoms of parkinsonism progressively worsened, adding cognitive and neuropsychiatric disorders. Cranial magnetic resonance imaging (MRI) showed diffuse and generalized white matter hyperintensity. Under the suspicion of GC, a frontal lobe biopsy was performed, with a pathology report of diffuse astrocytoma, thus confirming the diagnosis of GC. <b>Conclusion:</b> GC is a disease that presents with nonspecific clinical manifestations, making a clinical diagnosis challenging. It should be suspected in cases of parkinsonism accompanied by other focal neurological disorders. This leads to delayed diagnosis and consequently low incidence. The importance of MRI as a diagnostic aid is highlighted, with biopsy being necessary to confirm the diagnosis.</p>","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2024 ","pages":"3375867"},"PeriodicalIF":0.9,"publicationDate":"2024-11-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11620801/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142784212","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Osmotic Demyelination Syndrome in the Setting of Normonatremia: A Case Report and Review of the Literature.","authors":"Rose V Zach, Jeffrey F Barletta, Victor Zach","doi":"10.1155/crnm/6626539","DOIUrl":"10.1155/crnm/6626539","url":null,"abstract":"<p><p>Osmotic demyelination syndrome (ODS) is a rare complication associated with rapid sodium changes, typically encountered in patients with severe hyponatremia. ODS in patients with normonatremia (ODSIN) is less recognized. We describe a patient with MRI-detected ODSIN following neurotrauma and reviewed the relevant literature. We present a 57-year-old female with subdural hematoma following ground-level fall. Her initial sodium was 140 mEq/L but over 2 days, rose 17 mEq/L, peaking at 157 mEq/L. On exam, unexplainable, unexpected left-sided hemiplegia with weakness sparing her face were noted; ODS was suspected. MRI revealed central pontine T2 hyperintensity, T1 hypointensity, and FLAIR hyperintensity. Treatment included gradual lowering of sodium with normal saline and free water. She was discharged to a skilled nursing facility (SNF) with sodium 138 mEq/L and upon 4-year follow-up had moderate disability and required some assistance to support activities of daily living. Our literature search yielded 23 cases (22 normonatremic; 1 where normonatremia progressed to hypernatremia). Common signs/symptoms were hyperreflexia, dysarthria, and gait disturbance. Common comorbidities were alcoholism, dialysis, and renal disease/failure. Cranial MRI confirmed all cases, frequently revealing central pontine T2 and FLAIR hyperintensity and T1 hypointensity. Our review further characterizes the diverse etiologies, clinical course, and radiographic features of ODSIN. Clinicians should consider this diagnosis when neurological symptoms occur even in the setting of normonatremia.</p>","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2024 ","pages":"6626539"},"PeriodicalIF":0.9,"publicationDate":"2024-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11772055/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143051747","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Late Diagnostic Clues in Rapidly Progressing Probable Heidenhain Variant of Creutzfeldt-Jakob Disease.","authors":"Rahul Gaini, Julia Denniss, Elijah Lackey","doi":"10.1155/crnm/4618310","DOIUrl":"10.1155/crnm/4618310","url":null,"abstract":"<p><p>Presenting symptoms of sporadic Creutzfeldt-Jakob disease (sCJD) are variable, and as imaging and EEG may be normal in the early to middle stages of the disease process, serial testing is vital when there is clinical suspicion for sCJD. We present a case of probable Heidenhain variant of sCJD (HvCJD) with notable rapid progression. A 72-year-old woman presented with neurological decline following new-onset visual changes. Over the course of 3 weeks, she developed ataxia followed by paranoia, memory impairment, and visual hallucinations. An extensive workup from 1 week prior at an outside hospital was unrevealing and included two magnetic resonance imaging (MRI) studies read as normal and an EEG without periodic sharp wave complexes. Repeat of imaging at our hospital showed cortical restricted diffusion in the right occipital lobe. In combination with new periodic sharp wave complexes visualized on prolonged EEG, concern was raised for sCJD. Palliative care was consulted early in the hospitalization, and the patient was transitioned to comfort care and discharged 3 days after admission. She declined quickly and passed away at home within a week, one day before her send out CSF sample resulted with a positive real-time quaking-induced conversion (RT-QuiC) and markedly elevated T-tau protein and 14-3-3 gamma. As there is no treatment for this fatal disease, palliative engagement and discussion of goals of care in cases of CJD is critical in providing compassionate care for the patient and their family. High clinical suspicion warrants discussion of comfort care measures even prior to confirmation with RT-QuiC.</p>","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2024 ","pages":"4618310"},"PeriodicalIF":0.9,"publicationDate":"2024-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11614507/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142766491","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}