Neurodegeneration With Brain Iron Accumulation in a Case of Adult Aceruloplasminemia.

Aceruloplasminemia (ACP) is a rare genetic disorder that manifests in adulthood due to mutations in the CP (ceruloplasmin) gene, causing iron accumulation and neurodegeneration. Clinically, ACP presents with a range of symptoms, including mild microcytic anemia, diabetes mellitus, liver disease, retinopathy, progressive neurological symptoms such as cerebellar ataxia, involuntary movements, parkinsonism, mood and behavior disorders, and cognitive impairment. We present the case of a 53-year-old female with a history of first-degree consanguinity and a sister with anemia. At six years old, she developed asthenia, leading to multiple hospitalizations for acute hemolytic anemia requiring transfusions and iron therapy. She exhibited later memory disturbances, slowed comprehension, social withdrawal, and school discontinuation. At the age of 51, she developed gait disturbances, unexplained falls, and cognitive decline. One year later, cranial CT revealed a chronic bilateral subdural hematoma. On admission at 53, she had anarthria, right hemiparesis, diffuse rigidity, mouth dystonia, oculomotor paralysis, and intellectual deterioration. MRI showed superficial cortical and leptomeningeal hemosiderin deposits and bilateral signal anomalies in various deep brain regions. EEG revealed paroxysmal anomalies and abdominal MRI indicated hepatic iron overload. Laboratory tests confirmed ACP. This case highlights the rare and severe neurological and systemic manifestations of ACP, emphasizing the importance of early diagnosis and intervention in such degenerative diseases to prevent irreversible neurological complications.

Stiff Person Syndrome With Positive Anti-glutamic Acid Decarboxylase (GAD) Autoantibodies.

Stiff person syndrome (SPS) is a progressive autoimmune disorder characterized by muscle rigidity, frequent falls, and spasms, affecting primarily women. Recent advances have linked SPS to specific antibodies, such as anti-glutamic acid decarboxylase (GAD)-65, but effective treatments remain elusive. We report the case of a 53-year-old female who developed chronic lower back pain, tingling paresthesias, and progressive rigidity in the lower limbs. Electromyographic examination revealed muscle spasms and co-contractions, along with severe rigidity and reactive spasms upon touch. Imaging studies showed a polymyomatous uterus and no hypermetabolic lesions. She was diagnosed with stiff person syndrome with positive anti-GAD65 autoantibodies. Patient was treated with methylprednisolone, oral corticosteroids, gabapentin, baclofen, alprazolam, immunoglobulins, and rituximab, leading to moderate improvement in her condition. This case report aims to highlight the association between SPS and anti-GAD65 autoantibodies, emphasizing the importance of early diagnosis and comprehensive management.

Trends in the consumption and cost of antiepileptics in Morocco between 2008 and 2018.

INTRODUCTION: Epilepsy is one of the most common chronic neurological diseases. In Morocco, it is the second most common reason for consulting a neurologist. Its prevalence was estimated in Casablanca in 1998 at 1.1%. This study was carried out with the aim of evaluating, on the one hand, the consumption of antiepileptics and, on the other hand, the impact of their generic drugs on the pharmaceutical market between 2008 and 2018 in Morocco. MATERIALS AND METHODS: We used sales data for antiepileptic drugs collected from the Moroccan subsidiary of IQVIA, a multinational healthcare data science company, and we converted them into a defined daily dose (DDD/1000 inhabitants). RESULTS: The consumption of antiepileptic drugs increased from 442 to 641 DDD/1000 inhabitants between 2008 and 2018, all molecules combined, recording a 45% increase in the period studied. From an economic point of view, the calculation of the average cost of DDD, all molecules combined, gives an average cost of 2.42 dollars/DDD in 2018 versus 3.53 dollars/DDD in 2008 (1 dirham = 0.11 dollar), which corresponds to a decrease of -30%. This is due mainly to the introduction of generic drugs. CONCLUSION: These results show that while the average cost of a DDD has decreased, the consumption of antiepileptics has increased in Morocco over the years. Several events that have marked the drug market in Morocco have contributed to this trend, including the arrival on the market of several new molecules indicated for the treatment of epilepsy, the decrease in drug prices in 2014 and the policy of promoting generic drugs.