Review
Neurosciences
Jing Li, Xin Li, Liqun Wang, Guode Wu
Summary: This article reports a rare case of a 21-year-old female patient with co-existence of spinal muscular atrophy and moyamoya syndrome. After treatment, the patient's symptoms improved. However, further research is needed to elucidate the relationship between the two diseases.
FRONTIERS IN CELLULAR NEUROSCIENCE
(2022)
Review
Medicine, General & Internal
Fabio Del Duca, Aniello Maiese, Federica Spina, Giacomo Visi, Raffaele La Russa, Paola Santoro, Maria Serenella Pignotti, Paola Frati, Vittorio Fineschi
Summary: Acute idiopathic pulmonary hemorrhage in infants (AIPHI) is a rare and poorly understood disease with high lethality. We report a case of a 2-day-old male who died suddenly from acute pulmonary hemorrhage. Autopsy and histological analysis revealed alveolar spaces filled with red blood cells and hyaline membranes, supporting the diagnosis of AIPHI. A systematic review of scientific literature showed only 61 reported cases, with symptoms including acute respiratory distress, upper airway bleeding, hemoptysis, epistaxis, and hematemesis. Autopsy findings included lower airway hemorrhages and hemosiderin-laden macrophages. Our findings and literature data are crucial for accurate diagnosis, and we propose autoptic criteria for post-mortem diagnosis of AIPHI.
Review
Clinical Neurology
Ning Zou, Guixiang Guo, Fangchao Wan, Xin Li
Summary: Moyamoya disease is a rare cerebrovascular occlusive disease that can lead to cognitive decline, vomiting, and convulsions. In this case, the patient's cognitive functions significantly improved after treatment. This case highlights the possibility of atypical posterior reversible encephalopathy syndrome in patients with moyamoya disease.
FRONTIERS IN NEUROLOGY
(2021)
Review
Clinical Neurology
Wen-biao Xian, Xiang-song Zhang, Xin-chong Shi, Gan-hua Luo, Chang Yi, Zhong Pei
Summary: MMD is a rare cause of chorea, and cerebral PET imaging was used to study brain functional connectivity in patients with MMD-induced hemichorea. Abnormal metabolism and dopamine system integrity were evaluated, with findings of hypermetabolism in certain brain areas and reduced DAT binding in one patient. Literature review also revealed cerebral hypoperfusion and hypermetabolism in affected areas in previous cases.
FRONTIERS IN NEUROLOGY
(2021)
Review
Genetics & Heredity
Karolina Vankeviciene, Ausra Matuleviciene, Egle Mazgelyte, Virginija Paliulyte, Ramune Vankeviciene, Diana Ramasauskaite
Summary: Osteogenesis imperfecta (OI), also known as brittle bone disease, is a rare genetic connective tissue disorder that can be suspected before birth through prenatal ultrasound screening. This article presents a case of OI suspected at the 26th week of gestation, one year outcomes of the patient, and compares the case to other prenatally or soon-after-birth suspected and/or diagnosed OI cases in the literature.
Review
Infectious Diseases
Quentin Beauvillain, Catherine Lok, Camille Joachim, Farida Hamdad, Eva Lafabregue, Christophe Attencourt, Henri Sevestre, Guillaume Chaby
Summary: Leprosy remains uncommon in Europe, with most diagnosed cases being imported from endemic areas. However, there are still active clusters of leprosy in Mediterranean countries, including Spain, Greece, Portugal, and Italy. A 71-year-old Portuguese woman was reported to have an autochthonous case of leprosy, complicated by reversal reaction and erythema nodosum leprosum.
INTERNATIONAL JOURNAL OF INFECTIOUS DISEASES
(2021)
Review
Medicine, General & Internal
Cancan Li, Yiming Du, Huawei Wang, Gaohong Wu, Xueping Zhu
Summary: Neonatal Kawasaki Disease is extremely rare, with atypical clinical manifestations that are easy to miss. Early diagnosis and treatment are crucial to prevent potentially serious complications.
Review
Dermatology
Sarah Campos de Sales, Sicilia Rezende Oliveira, Erika Soares Pantuzzo, Fernanda Pereira Delgado Costa, Marcus Henrique Xavier, Ricardo Alves de Mesquita, Lucas Guimaraes Abreu, Felipe Eduardo Baires Campos, Wagner Henriques de Castro, Tarcilia Aparecida Silva
Summary: Cheilitis glandularis (CG) is a rare inflammatory disease that mainly affects the minor salivary glands in the lower lip. This article presents a case of deep suppurative CG in an 18-year-old black woman. A systematic literature review identified a total of 40 articles reporting CG cases, with varied clinical manifestations and treatment modalities.
INTERNATIONAL JOURNAL OF DERMATOLOGY
(2023)
Review
Medicine, General & Internal
Anna Eleftheriades, Ermioni Tsarna, Konstantina Toutoudaki, Eleni Paschalidou, Nikolaos Christopoulos, Ioannis Georgopoulos, Georgia Mitropoulou, Panagiotis Christopoulos
Summary: Giant juvenile fibroadenomas are common benign breast tumors that usually occur in one breast and are diagnosed when they exceed 10 cm in size. Treatment often involves total lump excision, and conservative management is possible but surgical excision is recommended for patients with suspicious imaging features or rapid growth of the mass.
JOURNAL OF CLINICAL MEDICINE
(2023)
Review
Immunology
Haixi Wu, Licheng Diao, Ke Xue, Qian Zhao, Xiaoqing Zhao, Qunli Xia, Jie Zheng, Meng Pan, Hua Cao
Summary: This article reports two cases of clinically amyopathic dermatomyositis (CADM) with autoimmune blisters. The article discusses the differences between the two diseases in terms of clinical presentation, pathogenesis, therapy, and the risk of complications.
FRONTIERS IN IMMUNOLOGY
(2022)
Review
Neurosciences
Hikaru Nakamura, Kei Sato, Shota Yoshimura, Yukishige Hayashi, Tsuyoshi Izumo, Yoshiharu Tokunaga
Summary: Cases of Moyamoya disease with concurrent Graves' disease and Down syndrome are extremely rare, and early imaging follow-ups and strict control of thyroid function are necessary for management. Revascularization surgery may be effective for patients who have already experienced ischemic attacks.
JOURNAL OF STROKE & CEREBROVASCULAR DISEASES
(2021)
Review
Medicine, General & Internal
Pan Huang, Min Xu, Xiao-Ying He
Summary: Crowned Dens Syndrome (CDS) is the leading cause of acute neck pain and a major cause of reduced neck mobility. The diagnosis of CDS is challenging due to limited awareness of the symptoms among clinicians. In this article, a case of odontoid syndrome is reported as a reference for the diagnosis and treatment of CDS.
FRONTIERS IN MEDICINE
(2022)
Review
Microbiology
Igor Dumic, Emily Person, Oladapo Igandan, Omobolanle Adetimehin, Charles W. Nordstrom, Christopher Williams, Fnu Shweta
Summary: An immunocompetent patient with community-acquired pneumonia caused by Anaplasma phagocytophilum is reported. The patient presented with fever, cough, and shortness of breath, and imaging showed lung infiltrates. Extensive investigations confirmed anaplasmosis and the patient recovered with doxycycline therapy. Empiric treatments without doxycycline in anaplasmosis pneumonia cases can lead to acute respiratory distress syndrome, therefore clinicians should be aware of this unusual presentation and initiate appropriate antimicrobial regimens.
Review
Multidisciplinary Sciences
Saleha Abdul Rab, Tarek Ziad Arabi, Hiba Muhammad Raheel, Belal Nedal Sabbah, Nowar Habib Zain AlAbidien, Abdulaziz Alsemari
Summary: This article reports the first known case in the literature of a 19-year-old female with partial trisomy 13q and bilateral Moyamoya syndrome. The patient experienced four strokes between the ages of 5 and 7, later developing intractable seizures, hemiplegia, spasticity in all limbs, global delay, and regression. This case study is important for elucidating the association between mitochondrial damage and stroke, as well as mechanisms of epilepsy associated with chromosomal abnormalities.
Review
Genetics & Heredity
Nishitha R. Pillai, Alia Ahmed, Todd Vanyo, Chester B. Whitley
Summary: Mucopolysaccharidosis type I (MPS I) is a rare lysosomal disorder that affects multiple tissues and organs. This study presents a case of early cardiac manifestation in an MPS I patient, emphasizing the importance of early evaluation and treatment for improved outcomes.
Article
Clinical Neurology
Ani Gok, Seha Kamil Saygili, Sebuh Kurugoglu, Sema Saltik, Nur Canpolat
Summary: This study examines the occurrence of nephrolithiasis in children with type 1 SMA and identifies hypercalciuria and high urine specific gravity as common risk factors. The study suggests that children with SMA type 1 may have an increased risk of nephrolithiasis compared to the general population.
PEDIATRIC NEUROLOGY
(2024)
Article
Clinical Neurology
Glenn S. Rivera, Jesse A. Stokum, Janet Dean, Cristina L. Sadowsky, Allan J. Belzberg, Matthew J. Elrick
Summary: This study evaluated the surgical efficacy of nerve transfer surgery in patients with acute flaccid myelitis (AFM) and found that preoperative clinical and neurophysiological data play a valuable role in preoperative planning and patient selection. The postoperative outcomes demonstrated that nerve transfer surgery is an effective strategy to restore strength.
PEDIATRIC NEUROLOGY
(2024)
Review
Clinical Neurology
Tristan T. Sands, Jennifer N. Gelinas
Summary: This review explores the concept of epileptic encephalopathy (EE) in pediatric epilepsy, discussing the potential impact of epileptic activity on normal brain development and mechanisms underlying cognitive and behavioral impairments. The findings highlight the threat of epileptic activity to normal brain physiology and development.
PEDIATRIC NEUROLOGY
(2024)
Editorial Material
Clinical Neurology
Grace Gombolay, Melissa A. Walker
PEDIATRIC NEUROLOGY
(2024)
Article
Clinical Neurology
Salman Rashid, Monisha Goyal, Kathryn Lalor, Khaled Al-Robaidi, Vivek Shukla, Fazlur Rahman, Manimaran Ramani
Summary: This study investigated the seizure risk in asymptomatic preterm infants with high-grade intraventricular hemorrhage who underwent long-term video electroencephalographic monitoring. The findings showed that approximately 16% of these infants had seizures, and those with seizures were younger and more likely to be remonitored.
PEDIATRIC NEUROLOGY
(2024)
Letter
Clinical Neurology
Bernadeta Zabielska, Natalia Rzewuska, Sergiusz Jozwiak
PEDIATRIC NEUROLOGY
(2024)
Article
Clinical Neurology
Kelly C. Burk, Maki Kaneko, Catherine Quindipan, My H. Vu, Maritza Feliz Cepin, Jonathan D. Santoro, Michele Van Hirtum-Das, Deborah Holder, Gordana Raca
Summary: This study compared the diagnostic yields of chromosomal microarray (CMA) and epilepsy-genes sequencing (EGS) for genetic epilepsy etiologies. It found that EGS had a significantly higher diagnostic yield than CMA, especially for patients with infantile seizure onset and additional neurological findings.
PEDIATRIC NEUROLOGY
(2024)
Article
Clinical Neurology
Ursula Thome, Larissa A. Batista, Renata P. Rocha, Vera C. Terra, Ana Paula A. Hamad, Americo C. Sakamoto, Antonio C. Santos, Marcelo Santos, Helio R. Machado
Summary: Rasmussen encephalitis (RE) is a characterized by pharmacoresistant epilepsy and progressive neurological deficits. Surgical disconnection of the affected hemisphere is considered the treatment of choice, although the precise etiology is still unknown. This study reports the clinical, electrographic, and neuroimaging features of children and adolescents who underwent hemispheric surgery (HS) for the treatment of RE.
PEDIATRIC NEUROLOGY
(2024)
Article
Clinical Neurology
Michal Tzadok, Rotem Gur-Pollack, Hadar Florh, Yael Michaeli, Tal Gilboa, Mirit Lezinger, Eli Heyman, Veronika Chernuha, Irina Gudis, Andreea Nissenkorn, Tally Lerman-Sagie, Bruria Ben Zeev, Shimrit Uliel-Sibony
Summary: Purified CBD is well-tolerated and effective in reducing seizure frequency in children and young adults with drug-resistant epilepsy.
PEDIATRIC NEUROLOGY
(2024)
Editorial Material
Clinical Neurology
Zimeng Ye, Sufang Lin, Xia Zhao, Mathew Wallis, Xinyi Gao, Li Sun, Jiarui Wu, Jing Duan, Yi Yao, Lin Li, Li Chen, Dezhi Cao, Zhanqi Hu, Victor W. Zhang, Samuel F. Berkovic, Ingrid E. Scheffer, Jianxiang Liao, Michael S. Hildebrand
PEDIATRIC NEUROLOGY
(2024)
Article
Clinical Neurology
Nicolas J. Abreu, Madeline Chiujdea, Shanshan Liu, Bo Zhang, Sarah J. Spence
Summary: This study found a low completion rate of chromosomal microarray (CMA) testing for patients with autism spectrum disorder (ASD). Provider recommendation and more follow-up visits were associated with CMA completion. Age, intellectual disability or global developmental delay, first-degree relative with ASD, and public insurance were all related to CMA completion. Parental concern and cost/insurance coverage were the most frequently documented barriers.
PEDIATRIC NEUROLOGY
(2024)
Article
Clinical Neurology
Wafa Bouchaala, Sirine Laroussi, Yosra Mzid, Imen Maaloul, Olfa Jallouli, Salma Zouari, Sihem Ben Nsir, Zeineb Mnif, Fatma Kammoun, Chahnez Triki
Summary: Moyamoya angiopathy is a rare but serious cerebrovascular disease in children, which may result in arterial ischemic stroke. The clinical and radiological presentations can vary and are often overlooked. Early diagnosis and treatment are crucial.
PEDIATRIC NEUROLOGY
(2024)
Letter
Clinical Neurology
Eline M. C. Hamilton, Pinar Topaloglu, Jigyasha Sinha, Francesco Nicita, Genevieve Bernard, S. Ali Fatemi, Marjo S. van der Knaap
PEDIATRIC NEUROLOGY
(2024)
Article
Clinical Neurology
Muhamad Azamin Anuar, Muhammad'Adil Zainal Abidin, Soo Hong Tan, Cai Fong Yeap, Nor Azni Yahaya
Summary: This study conducted in Malaysia found that most infants with epilepsy can achieve seizure remission. However, poor seizure control and developmental delay are associated with abnormal EEG background and neuroimaging abnormalities.
PEDIATRIC NEUROLOGY
(2024)