Rare Neurological Disorder Research Articles

Central pontine myelinolysis in anorexia nervosa: case report of a Chinese adolescent

Central pontine myelinolysis (CPM) is a rare neurologic disorder characterized by symmetric demyelination in the central region of pons. Until recently its prognosis was considered poor if not fatal. CPM may manifest as a severe complication of eating disorders, especially anorexia nervosa (AN), primarily due to a rapid correction of hyponatremia. In this report, we presented the case of a 13-year-old girl with a five-month history of AN who exhibited typical CPM brain lesions, confirmed by magnetic resonance imaging (MRI) examination without the context of severe electrolyte imbalances. Surprisingly, despite the patient’s critical clinical manifestations in the initial stages, her prognoses of both AN and CPM were relatively optimistic. We discussed these observations in the light of recent reports on CPM and AN comorbidity. Although the clinical implications of MRI-detected lesions remain uncertain, psychiatrists should be cautious about CPM when refeeding patients with AN. Further studies about the relationship between CPM and AN are imperative.

Reversible Cerebral Vasoconstriction Syndrome Following Blood Transfusion in a Patient With Chronic Anemia: A Case Report.

Reversible cerebral vasoconstriction syndrome (RCVS) is a rare neurological disorder characterized by transient constriction and dilation of cerebral arteries, leading to severe headaches and neurological deficits. This case report describes a 41-year-old woman with chronic anemia, acute chronic kidney disease, type 2 diabetes mellitus, and rheumatoid arthritis who developed RCVS following transfusion of packed red blood cells (PRBCs). She experienced sudden-onset seizures and a thunderclap headache 5 days post-transfusion. Diagnostic imaging, including computed tomography (CT) and magnetic resonance imaging (MRI), revealed the characteristic features of vasogenic edema. The patient was treated with blood pressure control and symptomatic relief for pain, resulting in gradual improvement. This case highlights the importance of recognizing RCVS as a potential complication of blood transfusions, particularly in patients with significant comorbidities. Understanding the possible mechanisms, including rapid hemoglobin correction, and the effects of residual plasma and storage lesions in transfused blood, is essential to prevent and manage this rare but serious condition.

A rare kind of Guillain-Barre syndrome triggered by acute hepatitis A infection in a pediatric patient: a case report and review of literature.

Guillain-Barre Syndrome (GBS) is a rare but serious neurological disorder characterized by acute flaccid paralysis and areflexia, usually after an infectious disease. This case report describes a previously healthy 9-year-old boy who developed GBS following an acute hepatitis A infection. The patient presented with rapidly progressive weakness, ascending paralysis, and areflexia, confirmed by clinical and electrophysiological findings. Results were consistent with the GBS subgroup of Acute Motor Axonal Neuropathy. Treatment with intravenous immunoglobulin (IVIG) led to gradual improvement, highlighting the importance of early recognition and intervention. This report reviews the current literature on the association between GBS and hepatitis A, emphasizing the rarity of such cases in pediatric populations. The report aims to raise awareness among clinicians about this potential complication of hepatitis A, underscoring the need for prompt diagnosis and treatment to improve outcomes in similar cases. The report emphasizes the need for prompt diagnosis and treatment to improve outcomes in similar cases.

PIK3CA-Related Overgrowth Spectrum: Exploring Brain Growth From Fetal to Infant

BackgroundMegalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a rare neurological disorder characterized by abnormal brain size, vascular malformations, and body overgrowth. MCAP is caused by somatic mosaicism of PIK3CA, a crucial gene in regulation of cell growth and survival, and is one of the disorders in the PIK3CA-related overgrowth spectrum. MethodsWe present a unique clinical report of a male infant diagnosed with MCAP from prenatal stages to age 12 months. Prenatal imaging unveiled ventricular asymmetry, later confirmed postnatally as megalencephaly. Genetic analysis identified a PIK3CA mutation. The patient underwent early interventions, including ventriculoperitoneal shunt placement and posterior fossa decompression. ResultsDespite early interventions, the patient developed progressive macrocrania, hydrocephalus, and significant neurodevelopmental delay. Multidisciplinary management and continuous neuroimaging were crucial in addressing complications associated with the disorder. ConclusionsThis case underscores the critical need for multidisciplinary care and continual neuroimaging surveillance to effectively navigate the progressive complications associated with PIK3CA-related overgrowth spectrum. The diagnostic hurdles and management challenges intrinsic to the disorder's natural course are elucidated. Although current treatments manage symptoms, emerging therapies hold promise for improving patient outcomes.

Evaluation of pitolisant, sodium oxybate, solriamfetol, and modafinil for the management of narcolepsy: a retrospective analysis of the FAERS database.

Narcolepsy, a rare neurological disorder believed to have an autoimmune etiology, necessitates lifelong management. This study aimed to provide evidence supporting the safety of pharmacological treatment for narcolepsy. Five-year data on pitolisant, sodium oxybate, solriamfetol, and modafinil were extracted from the FDA Adverse Event Reporting System (FAERS) self-reporting database for the period spanning from 2019 to 2023. Various statistical methods, including the reporting odds ratio (ROR), proportional reporting ratio (PRR), Bayesian confidence propagation neural network analysis (BCPNN), and multi-item gamma Poisson shrinker (MGPS), were employed to quantify the signals. Finally, a comparative analysis was conducted between demographic data, outcomes, and inherent associations among the medications and the signals. After data analysis, we obtained 50 signals (a cumulative count of 762 cases) for pitolisant, 640 signals (corresponding to 46,962 cases) for sodium oxybate, 40 signals (equivalent to 1,228 cases) for solriamfetol, and finally, 72 signals (representing 632 cases) for modafinil. The majority of these patients were female. Psychiatric and nervous system disorders were identified as the predominant adverse drug events (ADEs). For sodium oxybate, it is crucial to consider psychiatric disorders (such as suicidal ideation), respiratory disorders (including sleep apnea syndrome and respiratory depression), and signs of pregnancy and congenital familial diseases. For solriamfetol, noteworthy new ADEs include drug inefficacy, suicidal ideation, restless legs syndrome, and somnambulism. Furthermore, a relationship has been observed between modafinil use and restricted fetal growth, spontaneous abortion, cognitive disorders, and drug inefficacy and abuse. The majority of observed adverse reactions in this study were consistent with those listed in the product instructions. However, potential novel or notable ADE signals were identified through real-world pharmacovigilance analysis. It is anticipated that this paper will offer additional information regarding safe and rational medication for narcolepsy.

First report of PURA syndrome in a Colombian patient with de novo missense variant c.692T>C (p.Phe231Ser)

We present the first documented case of PURA syndrome in Colombia. This rare neurological disease results from mutations in the PURA gene located on chromosome 5, leading to haploinsufficiency of the PUR-α protein. This protein is essential for early brain development and neuronal function. The patient, a seven-years-old boy, started showing dystonic hand movements at 14 days of age; at six, he had neurodevelopmental delay, generalized hypotonia, frequent episodes of apnea, and swallowing difficulties. Although other conditions were initially considered, such as Duchenne muscular dystrophy and neuronal ceroid lipofuscinosis, a whole exome sequencing revealed the pathogenic variant c.692T>C (p.Phe231Ser) in the exon 1 of the PURA gene, not previously reported in other patients. With this finding, we adopted a comprehensive management approach addressing the patient’s characteristics and alterations. Since the PURA syndrome is not on the list of orphan/rare diseases recognized by the Colombian Ministerio de Salud y Protección Social, we hope our report will contribute to its official recognition. The case shows the importance of considering rare diagnoses in patients with uncommon neurological symptoms, underlining the usefulness of genomic sequencing in diagnosis and the need for collaboration to optimize healthcare for patients with PURA syndrome and similar diseases.

Studies of C57BL/6J Mice Deficient in Receptors for IFNα/β and IFNγ as a Model for EV-D68 Acute Flaccid Myelitis

AbstractEnterovirus D68 (EV-D68) causes severe respiratory disease and is a strong candidate as the etiologic agent of acute flaccid myelitis. Acute flaccid myelitis is a rare neurologic disorder that typically affects adolescents less than 13 y old, manifesting as muscle paralysis or weakness. No approved antiviral compounds or vaccines exist for EV-D68. An appropriate mouse model is needed to develop therapeutics. We previously showed that the AG129 mouse strain, which has a double knockout of Ifnar1 and Ifngr1 on the 129/Sv genetic background, exhibits clear clinical signs when infected intraperitoneally with EV-D68 at postnatal day 10. The AGB6 strain, which has the same double knockout, but on the C57BL/6 (B6) genetic background, is more sensitive to dengue virus infections relative to AG129. Given the widespread use of the B6 background in mouse research, we systematically assessed EV-D68 infection in AGB6, the AB6 and GB6 strains, which have single knockouts in Ifnar1 and Ifngr1, respectively, and the parental B6 strain. AGB6 was highly susceptible to EV-D68, equivalent to AG129. No differences in susceptibility were observed between AGB6 and AB6 and GB6 and B6, suggesting that the IFNγ receptor contributes little to EV-D68 protection. Because B6 is the genetic background for many genetically modified mice, AGB6 facilitates the evaluation of the role of host genes in EV-D68 pathogenesis through genetic crosses. We introduced the knockout allele of Setd3, a gene essential for enterovirus RNA replication, into AGB6. While EV-D68 lethality was completely penetrant in AGB6-Setd3+/+ and AGB6-Setd3+/− mice, all AGB6-Setd3−/− littermates survived until the experimental endpoint. We conclude that AGB6 is well suited for testing EV-D68 therapeutics. Our study further underscores the importance of SETD3 being a promising therapeutic target for controlling EV-D68 and other enterovirus infections.

Hirayama Disease in a Young Male: A Case Report

Hirayama disease is a rare benign neurological disease that affects the anterior horn of the spinal cord at C5 to T1, mainly at C7 and C8 due to imbalance growth between the vertebral column and the dura mater leading to microcirculatory disturbances in the anterior portion of the spinal cord due to overstretched cord, especially during flexion of the neck causing unilateral or rarely asymmetrically bilateral upper limb weakness and muscle wasting.It is a case of a 21-year-old boy presented with weaknesses in his left hand and forearm for 2 years which aggravates during cold weather and flexion of the neck. A plain x-ray of the neck and MRI of the cervical spine were conducted which show the features of Hirayama disease.

Palmitoylated Importin α Regulates Mitotic Spindle Orientation Through Interaction with NuMA.

Regulation of cell division orientation is a fundamental process critical to differentiation and tissue homeostasis. Microtubules emanating from the mitotic spindle pole bind a conserved complex of proteins at the cell cortex which orients the spindle and ultimately the cell division plane. Control of spindle orientation is of particular importance in developing tissues, such as the developing brain. Misorientation of the mitotic spindle and thus subsequent division plane misalignment can contribute to improper segregation of cell fate determinants in developing neuroblasts, leading to a rare neurological disorder known as microcephaly. We demonstrate that the nuclear transport protein importin α, when palmitoylated, plays a critical role in mitotic spindle orientation through localizing factors, such as NuMA, to the cell cortex. We also observe craniofacial developmental defects in Xenopus laevis when importin α palmitoylation is abrogated, including smaller head and brains, a hallmark of spindle misorientation and microcephaly. These findings characterize not only a role for importin α in spindle orientation, but also a broader role for importin α palmitoylation which has significance for many cellular processes.

Pharmacotherapy for behavioural manifestations in frontotemporal dementia: An expert consensus from the European Reference Network for Rare Neurological Diseases (ERN-RND).

Frontotemporal dementia (FTD) is a neurodegenerative disorder characterized by pervasive personality and behavioural disturbances with severe impact on patients and caregivers. In current clinical practice, treatment is based on nonpharmacological and pharmacological approaches. Unfortunately, trial-based evidence supporting symptomatic pharmacological treatment for the behavioural disturbances in FTD is scarce despite the significant burden this poses on the patients and caregivers. The study examined drug management decisions for several behavioural disturbances in patients with FTD by 21 experts across European expert centres affiliated with the European Reference Network for Rare Neurological Diseases (ERN-RND). The study revealed the highest consensus on drug treatments for physical and verbal aggression, impulsivity and obsessive delusions. Antipsychotics (primarily quetiapine) were recommended for behaviours posing safety risks to both patients and caregivers (aggression, self-injury and self-harm) and nightly unrest. Selective serotonin reuptake inhibitors were recommended for perseverative somatic complaints, rigidity of thought, hyperphagia, loss of empathy and for impulsivity. Trazodone was specifically recommended for motor unrest, mirtazapine for nightly unrest, and bupropion and methylphenidate for apathy. Additionally, bupropion was strongly advised against in 10 out of the 14 behavioural symptoms, emphasizing a clear recommendation against its use in the majority of cases. The survey data can provide expert guidance that is helpful for healthcare professionals involved in the treatment of behavioural symptoms. Additionally, they offer insights that may inform prioritization and design of therapeutic studies, particularly for existing drugs targeting behavioural disturbances in FTD.

Exploring the Frontier: The Human Microbiome's Role in Rare Childhood Neurological Diseases and Epilepsy.

Emerging research into the human microbiome, an intricate ecosystem of microorganisms residing in and on our bodies, reveals that it plays a pivotal role in maintaining our health, highlighting the potential for microbiome-based interventions to prevent, diagnose, treat, and manage a myriad of diseases. The objective of this review is to highlight the importance of microbiome studies in enhancing our understanding of rare genetic epilepsy and related neurological disorders. Studies suggest that the gut microbiome, acting through the gut-brain axis, impacts the development and severity of epileptic conditions in children. Disruptions in microbial composition can affect neurotransmitter systems, inflammatory responses, and immune regulation, which are all critical factors in the pathogenesis of epilepsy. This growing body of evidence points to the potential of microbiome-targeted therapies, such as probiotics or dietary modifications, as innovative approaches to managing epilepsy. By harnessing the power of the microbiome, we stand to develop more effective and personalized treatment strategies for children affected by this disease and other rare neurological diseases.

Pregnancy and delivery after functional hemispherectomy for Rasmussen’s encephalitis: a case report

BackgroundRasmussen’s encephalitis (RE) is a rare neurologic disorder characterized by progressive seizures and unilateral cerebral atrophy with onset during childhood and unknown etiology. When medical therapy appears refractory, surgical disconnection of the affected hemisphere is indicated. Quality of life after functional hemispherectomy is largely good, affected females may therefore pursue pregnancy. However, data on pregnancy and delivery in RE post hemispherectomy is extremely rare.Case presentationWe present the case of a patient with left functional hemispherectomy for RE at the age of seven, who experienced two successful pregnancies. In both pregnancies, her post-surgical symptoms including right-sided spasticity, cephalgia, dizziness, and impairment of vision and speech deteriorated but improved to pre-pregnancy level after delivery. Neurologic sequelae post-hemispherectomy overlapped with clinical signs of preeclampsia and required close diagnostic surveillance during both pregnancies.ConclusionThere are no data on the interaction between RE, hemispherectomy and pregnancy, making maternal and fetal risk assessment difficult. Due to the complexity of the condition and symptoms, management of RE in pregnancy remains highly challenging and requires an interdisciplinary approach. This is the first case description of two successful pregnancies in a woman with RE and status post-hemispherectomy. Further evidence is urgently required to improve counseling and management of affected women.

Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing.

Variant annotations are crucial for efficient identification of pathogenic variants. In this study, we retrospectively analyzed the utility of four annotation tools (allele frequency, ClinVar, SpliceAI, and Phenomatcher) in identifying 271 pathogenic single nucleotide and small insertion/deletion variants (SNVs/small indels). Although variant filtering based on allele frequency is essential for narrowing down on candidate variants, we found that 13 de novo pathogenic variants in autosomal dominant or X-linked dominant genes are registered in gnomADv4.0 or 54KJPN, with an allele frequency of less than 0.001%, suggesting that very rare variants in large cohort data can be pathogenic de novo variants. Notably, 38.4% candidate SNVs/small indels are registered in the ClinVar database as pathogenic or likely pathogenic, which highlights the significance of this database. SpliceAI can detect candidate variants affecting RNA splicing, leading to the identification of four variants located 11 to 50bp away from the exon-intron boundary. Prioritization of candidate genes by proband phenotype using the PhenoMatcher module revealed that approximately 95% of the candidate genes had a maximum PhenoMatch score ≥ 0.6, suggesting the utility of phenotype-based variant prioritization. Our results suggest that a combination of multiple annotation tools and appropriate evaluation can improve the diagnosis of rare diseases.

Behavioral screening reveals a conserved residue in Y-Box RNA-binding protein required for associative learning and memory in C. elegans.

RNA-binding proteins (RBPs) regulate translation and plasticity which are required for memory. RBP dysfunction has been linked to a range of neurological disorders where cognitive impairments are a key symptom. However, of the 2,000 RBPs in the human genome, many are uncharacterized with regards to neurological phenotypes. To address this, we used the model organism C. elegans to assess the role of 20 conserved RBPs in memory. We identified eight previously uncharacterized memory regulators, three of which are in the C. elegans Y-Box (CEY) RBP family. Of these, we determined that cey-1 is the closest ortholog to the mammalian Y-Box (YBX) RBPs. We found that CEY-1 is both necessary in the nervous system for memory ability and sufficient to promote memory. Leveraging human datasets, we found both copy number variation losses and single nucleotide variants in YBX1 and YBX3 in individuals with neurological symptoms. We identified one predicted deleterious YBX3 variant of unknown significance, p.Asn127Tyr, in two individuals with neurological symptoms. Introducing this variant into endogenous cey-1 locus caused memory deficits in the worm. We further generated two humanized worm lines expressing human YBX3 or YBX1 at the cey-1 locus to test evolutionary conservation of YBXs in memory and the potential functional significance of the p.Asn127Tyr variant. Both YBX1/3 can functionally replace cey-1, and introduction of p.Asn127Tyr into the humanized YBX3 locus caused memory deficits. Our study highlights the worm as a model to reveal memory regulators and identifies YBX dysfunction as a potential new source of rare neurological disease.

An Elderly Lady with Tetany and Brain Calcification

We present the case of a 59-year-old Bangladeshi lady who presented in Intensive Care Unit with tetany and altered level of consciousness. Tetany resolved after giving IV calcium injection. Initial laboratory investigations showed hypocalcemia. Non-contrast CT brain showed irregular bilateral symmetrical calcifications in basal ganglia, thalami, cerebellum and corona radiata. Subsequent laboratory test revealed low parathyroid hormone level. So, she was diagnosed as Fahr’s syndrome due to secondary hypoparathyroidism. This is a rare neurological disorder characterized by metabolic, biochemical, neuroradiological and neuropsychiatric abnormalities due to symmetrical and bilateral intracranial calcifications. Bangladesh Crit Care J September 2024; 12 (2): 160-162

Optic Chiasmitis as an Isolated Manifestation of Myelin Oligodendrocyte Glycoprotein-Associated Disease – a Case Report

IntroductionThe most common cause of chiasmopathy is compression of the optic chiasm by parasellar tumours. The tumours may produce any pattern of visual field defect depending on the tumour location and the patient’s chiasmal anatomy. Rare, non-compressive causes of chiasmopathy include, among others, infectious, post-infectious, inflammatory, autoimmune, demyelinating, toxic and ischaemic processes. Chiasmopathy can also occur due to trauma and radiation treatment.Case reportWe report a case of a 43-year-old patient who was admitted to our department because of a two-month history of headaches and constant, symmetrical blurriness over the temporal sides of vision. After a wide-ranging diagnostic process, the patient was diagnosed with an isolated optic chiasmitis in the course of myelin oligodendrocyte glycoprotein-associated disease, which is a rare, monophasic or relapsing, antibody-mediated inflammatory demyelinating disorder of the central nervous system.ConclusionsIt is crucial to remember that parasellar tumours are not the only cause of bitemporal hemianopsia. Patients with bitemporal hemianopsia, if there is no compressive lesion of the optic chiasm, should be investigated for optic chiasmitis. Optic chiasmitis is not a diagnosis in itself, but a sign of an underlying pathology, and during its evaluation should be treated as a variation of atypical optic neuritis. We hope that this ophthalmic manifestation of a rare neurological disease will make other clinicians aware of the utter importance of careful evaluation of visual disturbances.

Sacral neuromodulation for Organophosphate-induced delayed neuropathy neurogenic lower urinary tract dysfunction: a case report

BackgroundOrganophosphate-Induced Delayed Neuropathy (OPIDN) is a rare neurological disorder triggered by exposure to organophosphorus compounds. These compounds exert their neurotoxic effects by impacting the nervous system, leading to systemic manifestations. Urinary system symptoms are infrequently observed in clinical settings. Currently, effective therapeutic interventions for OPIDN-related urinary symptoms are lacking. Sacral nerve modulation therapy, an FDA-approved approach for managing lower urinary tract symptoms, presents as a promising option. Herein, we present a case of OPIDN-induced lower urinary tract obstruction successfully treated with sacral nerve modulation therapy, resulting in substantial symptom relief.Case reportA 27-year-old male patient presented with severe bilateral hydronephrosis, attributed to low bladder compliance and accompanied by a fever persisting for 6 days. The patient’s medical history revealed accidental ingestion of organophosphate pesticide (Dimethoate) with no concomitant underlying diseases. In consideration of the potential for OPIDN, surgical intervention in the form of sacral neuromodulation (phase I) was undertaken. Subsequent evaluation one month post-surgery revealed notable improvements in both bladder compliance and bilateral hydronephrosis, necessitating sacral neuromodulation (phase II). Presently, following a 5-month follow-up period, the patient remains asymptomatic and in favorable health.ConclusionThis patient achieved long-term relief using sacral neuromodulation.

Dyke-Davidoff-Masson Syndrome in a Tanzanian patient: a case report

BackgroundDyke-Davidoff-Masson Syndrome (DDMS) is a rare neurological disorder resulting from an insult to the developing brain in utero or during early life which is characterized by refractory seizures and a wide variety of deficits. Due to its rarity, the condition is often overlooked although a detailed history and imaging can help distinguish it from other similar conditions and provide early diagnosis.Case presentationA 30-year-old African female presented with a history of recurrent seizures and intellectual disability. She was born via vaginal delivery, and her post-natal history was unremarkable. Her developmental milestones were normal until the age of three, when she was hospitalized for two weeks due to a febrile illness accompanied by generalized seizures, from which she fully recovered. On cognitive assessment, she scored 14 out of 60 on the Ravens Standard Progressive Matrices (RSPM), indicating an intellectual disability. Neurological examination revealed constructional apraxia, an upper motor neuron lesion (UMNL) affecting the facial nerve, and left-sided spastic paresis. Additionally, a slow, sinuous writhing movement involving all the fingers of her left hand was observed. A computed tomography (CT) scan of her head confirmed a diagnosis of Dyke-Davidoff-Masson syndrome (DDMS). The scan showed significant volume loss in the right cerebral hemisphere, gross dilation of the right lateral ventricle with ex-vacuo dilatation, right calvarial thickening, and hyperpneumatization of the right frontal sinus. She was managed conservatively with anticonvulsants, which effectively controlled her seizures.ConclusionIn the setting of recurrent seizures, intellectual disability, hemiparesis, or facial asymmetry, a clinician should have a high index of suspicion for DDMS. Late diagnosis is often related to intractable seizures to anticonvulsants, necessitating hemispherectomy, which is not a readily available option in limited resource settings.

A narrative review of magnetic resonance imaging findings in pediatric idiopathic intracranial hypertension.

Idiopathic intracranial hypertension (IIH) is a rare neurological disorder in the pediatric population which is defined as an increase in intracranial pressure (ICP) without the presence of brain parenchymal lesions, hydrocephalus, or central nervous system infection. In this study, we have determined the magnetic resonance imaging (MRI) findings in IIH patients. A comprehensive literature search was conducted using the electronic databases including Web of Sciences, Scopus, and Pubmed to identify suitable and relevant articles using keyword search methods. The search included keywords such as "idiopathic intracranial hypertension," "pseudotumor cerebri," "MRI," and "pediatrics." The search was limited to the available publications up to January 2024. MRI plays a crucial role in diagnosing IIH by excluding secondary causes and revealing neuroimaging findings associated with elevated ICP. Despite fewer studies in children compared to adults, MRI serves as a cornerstone in identifying traditional neuroradiological markers such as empty sella turcica, posterior globe flattening, optic nerve tortuosity, optic nerve sheath distension, and transverse venous sinus stenosis. Additional subtle markers include increased Meckel's cave length, cerebellar tonsillar herniation, and slit-like ventricles, although these are less reliable. Diffusion-weighted imaging does not typically show cerebral ADC value changes indicative of cerebral edema in pediatric IIH. MRI findings provide valuable non-invasive diagnostic indicators that facilitate early detection, clinical management, and potential surgical intervention in pediatric IIH. The reliability of these MRI markers underscores their importance in clinical practice.

Fahr syndrome: linking late onset depression and cognitive decline

Fahr syndrome, a rare neurological disorder characterized by bilateral calcifications of the basal ganglia and other brain regions, has been associated with various neuropsychiatric symptoms. This case report highlights the correlation between late-onset depression and cognitive decline in a patient diagnosed with Fahr syndrome. A 45-year-old female patient presented with progressive cognitive impairment and depressive symptoms over a period of 2 years. Neuroimaging revealed extensive calcifications in the basal ganglia and frontal lobes consistent with Fahr syndrome. Neuropsychological assessment confirmed significant deficits in memory, attention, and executive function. Pharmacological intervention for depression resulted in partial improvement in mood but limited effect on cognitive symptoms. This case underscores the importance of recognizing Fahr syndrome as a potential etiology for late-onset depression and cognitive decline, necessitating comprehensive neurological evaluation and management.