It is unclear whether a dominant hemispherectomy/hemispherotomy in someone with Rasmussen\'s Encephalitis (RE) may produce a satisfactory outcome when performed over the age of 40 years. Important questions include whether RE may continue to evolve three decades after onset, and whether a hemispherectomy may adequately shift language function when performed in older ages. Two cases illustrate seizure, language, motor and functional outcomes after dominant hemispherotomies. The cases were selected from an epilepsy surgery database of procedures performed at a private hospital in Cape Town, South Africa, spanning the period 1998-2023. A man in his 40s with epilepsy since childhood and dominant hemisphere RE partially regained impaired comprehension and ambulation, while expressive language function did not recover post-hemispherotomy. By contrast, a young teenage patient with dominant hemisphere RE demonstrated considerable recovery of expressive and receptive language and ambulation post-surgery. Both remain seizure-free. These two cases demonstrate that a dominant hemispherotomy, when performed on a quadragenarian, may produce a satisfactory, albeit inferior, functional outcome in comparison to when performed in childhood. RE may cause progressive neurological dysfunction in the late thirties and older and should be considered in patients presenting with functional decline decades after disease onset.

UNASSIGNED: To characterize retinal structural biomarkers for progression in adult-onset Stargardt disease from multimodal retinal imaging in-vivo maps.
UNASSIGNED: Seven adult patients (29-69 years; 3 males) with genetically-confirmed and clinically diagnosed adult-onset Stargardt disease and age-matched healthy controls were imaged with confocal and non-confocal Adaptive Optics Scanning Light Ophthalmoscopy (AOSLO), optical coherence tomography (OCT), fundus infrared (FIR), short wavelength-autofluorescence (FAF) and color fundus photography (CFP). Images from each modality were scaled for differences in lateral magnification before montages of AOSLO images were aligned with en-face FIR, FAF and OCT scans to explore changes in retinal structure across imaging modalities. Photoreceptors, retinal pigment epithelium (RPE) cells, flecks, and other retinal alterations in macular regions were identified, delineated, and correlated across imaging modalities. Retinal layer-thicknesses were extracted from segmented OCT images in areas of normal appearance on clinical imaging and intact outer retinal structure on OCT. Eccentricity dependency in cell density was compared with retinal thickness and outer retinal layer thickness, evaluated across patients, and compared with data from healthy controls.
UNASSIGNED: In patients with Stargardt disease, alterations in retinal structure were visible in different image modalities depending on layer location and structural properties. The patients had highly variable foveal structure, associated with equally variable visual acuity (-0.02 to 0.98 logMAR). Cone and rod photoreceptors, as well as RPE-like structures in some areas, could be quantified on non-confocal split-detection AOSLO images. RPE cells were also visible on dark field AOSLO images close to the foveal center. Hypo-reflective gaps of non-waveguiding cones (dark cones) were seen on confocal AOSLO in regions with clinically normal CFP, FIR, FAF and OCT appearance and an intact cone inner segment mosaic in three patients.
UNASSIGNED: Dark cones were identified as a possible first sign of retinal disease progression in adult-onset Stargardt disease as these are observed in retinal locations with otherwise normal appearance and outer retinal thickness. This corroborates a previous report where dark cones were proposed as a first sign of progression in childhood-onset Stargardt disease. This also supports the hypothesis that, in Stargardt disease, photoreceptor degeneration occurs before RPE cell death.

BACKGROUND: Leukoencephalopathy with vanishing white matter (VWM) is an autosomal recessive disorder affecting the white matter of the brain. It typically manifests during childhood, with clinical features including sudden and severe neurological deterioration triggered by stressors such as febrile illness, minor head trauma, or stressful events. Adult-onset cases of VWM are exceptionally uncommon.
METHODS: In this case, we present an adult patient who exhibited late-onset progressive VWM characterized by ataxia, postural instability, cognitive impairment, and emotional disturbances. Comprehensive screening for endocrine, metabolic, tumor, and immunologic disorders yielded normal or negative results. Brain imaging revealed diffuse and confluent hyperintensity in the white matter on T2-weighted images, along with periventricular cavitations. Genetic testing confirmed the diagnosis of VWM, identifying two heterozygous variants in the eukaryotic translation initiation factor 2B subunit γ (EIF2B3) gene: a pathogenic variant, c.1037 T > C (p.I346T), and a variant of undetermined significance, c.22A > T (p.M8L). Upon a 2-year follow-up, the patient\'s symptoms deteriorated rapidly following a COVID-19 infection.
CONCLUSIONS: In conclusion, we have presented a case of classical adult-onset VWM. Since there are no cures or definitive treatments for the disease, it\'s extremely important to focus on early diagnosis and the prevention of stressors to avoid acute deterioration.

Asthma is characterized by chronic inflammation and respiratory symptoms such as wheezing and coughing. In the United States, it affects 25 million people annually. Chronic smokers, poor adherence to medications, incorrect use of inhalers, and overall poor asthma control are known risk factors that lead to poorly controlled chronic asthmatics. Although asthma is traditionally categorized by severity, treatment by primary care providers is guided by the Global Initiative for Asthma or the National Asthma Education and Prevention Program. As more research is available, shared decision-making between health care providers and patients will lead to improved outcomes in managing chronic asthma.

Multiple epiphyseal dysplasia (MED) is a congenital disease causing epiphyseal dysplasia in long bones. Herein, we report a case of a middle-aged man with bilateral knee joint locking symptoms who was diagnosed with multiple epiphyseal dysplasia caused by Matrilin-3 (MATN3) pathogenic variants and was successfully treated with arthroscopic loose body removal. A 48-year-old man has had bilateral knee pain since his twenties and underwent loose body removal of both knees in his thirties. He visited our hospital for worsening locking symptoms in both knees. Twenty years ago, his son had been diagnosed with suspected multiple epiphyseal dysplasia. Genetic and imaging testing confirmed his diagnosis of multiple epiphyseal dysplasia due to Matrilin-3 pathogenic variants. Arthroscopic loose body removal was performed, and the locking symptoms disappeared after surgery. Arthroscopic loose body removal was effective for the locking symptoms in a mild adult case of multiple epiphyseal dysplasias caused by Matrilin-3 pathogenic variants.

UNASSIGNED: There is evidence that some childhood trauma increases the risk of the first onset of mental disorders and for the first time into adulthood. There are no studies that assessed whether exposure to war has this delayed long-term effect.
UNASSIGNED: To fill this gap by investigating the comparative roles of war and non-war trauma on the first onset of adulthood mood and anxiety disorders.
UNASSIGNED: A nationally representative sample of 2,857 Lebanese was assessed using the World Health Organization Composite International Diagnostic Interview 3.0. with the onset of exposure to trauma and of first onset of mood and anxiety disorders.
UNASSIGNED: Non-war childhood traumata especially those belonging to family malfunctioning continue to exert their effect for the first time well beyond their occurrence as they were the most universal predictors for adult onset of both mood and anxiety disorders. War trauma during childhood predicted mood anxiety and mood (anxiety only in males) only below age 18 y. war childhood trauma predicts the first onset of mood and anxiety disorders before age 18 y in females, but only anxiety in males.
UNASSIGNED: Childhood traumata are not equal in predicting the first onset of mood and anxiety disorders into adulthood. Family malfunctioning looks to carry the longest such risk and war more of shorter immediate effects. This might change though with re-exposure to war in adulthood which might unravel dormant vulnerability.

Most adult cases of hen\'s egg allergy are carried over from childhood, and new-onset adult cases are rare. Such cases may result from cross-reactivity or sensitization by inhalation. Here we present a rare case of adult-onset egg allergy due to monosensitization to ovalbumin (Gal d 2) with an unclear sensitization pathway. A 27-year-old woman developed recurrent gastrointestinal symptoms after ingestion of raw and under-cooked eggs. She had never suffered from atopic dermatitis or food allergies. She had never kept birds as pets and had no history of exposure to egg allergens. Prick to prick testing was positive only with raw egg white. Specific IgE testing revealed monosensitization to Gal d 2. She was advised to avoid raw and undercooked eggs and her symptoms resolved. In the management of adult-onset egg allergy, evaluation of allergen components will lead to appropriate elimination guidelines, and investigation of sensitization pathways may help identify the cause of this disease.

Hemophagocytic Lymphohistiocytosis is an inflammatory condition which results in over activation of the immune system. It could be either sporadic or familial. The familial subtype is linked with various genetic mutations and is commonly a disease of the young. Here we report a case of HLH in an adult, occurring in the background of a successfully treated hematological malignancy. Upon workup, he was also found to have pathogenic STXBP2 mutation, suggesting HLH of familial origin. To date, only few cases of adult-onset familial HLH have been brought to light.

We report a rare case of adult-onset sacral meningocele where compression triggered a specific headache. A 46-year-old woman presented with a headache, which worsened when she was in a sitting or supine position. A subcutaneous mass was observed on her left buttock, the compression of which also induced headache. No neurological deficits were evident. Lumbar and sacral magnetic resonance imaging demonstrated a meningocele in the left dorsal buttock, connecting to the sacral cerebrospinal fluid (CSF) space, and spinal computed tomography revealed sacral dysplasia. Initial meningocele resection improved the patient\'s headache, but the cyst recurred 2 years later. Following repeated surgery to reinforce the meningocele orifice, the headache was relieved and has been absent for more than 6 years. The headache was due to intracranial pressure fluctuations due to CSF influx into and drainage from the meningocele. Meningocele development in adulthood can be owing to a spinal bone defect and pressure load on the spinal dura. Surgical resection can improve symptoms resulting from meningocele, and reinforcement of the orifice using an artificial surgical membrane effectively prevents recurrence.

BACKGROUND: Undifferentiated autoinflammatory diseases are characterized by recurrent or persistent fever, usually combined with other inflammatory manifestations, and negative or inconclusive genetic studies for monogenic autoinflammatory disorders.
OBJECTIVE: To define and characterize disease phenotypes in adult patients diagnosed in an adult reference center with undifferentiated autoinflammatory diseases, and to analyze the efficacy of the drugs used in order to provide practical diagnostic and therapeutic recommendations.
METHODS: Retrospective study (2015-2022) of patients with undifferentiated autoinflammatory diseases among all patients visited in our reference center. Demographic, clinical, laboratory features and detailed therapeutic information was collected.
RESULTS: Of the 334 patients with a suspected autoinflammatory disease, 134 (40%) patients (61% women) were initially diagnosed with undifferentiated autoinflammatory diseases. Mean age at disease onset and at diagnosis was 28.7 and 37.7 years, respectively. In 90 (67.2%) patients, symptoms started during adulthood. Forty-four (32.8%) patients met diagnostic/classification criteria for adult PFAPA syndrome. In the remaining patients, four additional phenotypes were differentiated according to the predominant manifestations: a) Predominantly fever phenotype (n = 18; 13.4%); b) Predominantly abdominal/pleuritic pain phenotype (n = 9; 6.7%); c) Predominantly pericarditis phenotype (n = 18; 13.4%), and d) Complex syndrome phenotype (n = 45; 33.6%). Prednisone (mainly on demand), colchicine and anakinra were the drugs commonly used. Overall, complete responses were achieved with prednisone in 41.3%, colchicine in 40.2%, and anakinra in 58.3% of patients in whom they were used. By phenotypes, prednisone on demand was more effective in adult PFAPA syndrome and colchicine in patients with the abdominal/pleuritic pain pattern and PFAPA syndrome. Patients with complex syndrome achieved complete responses with prednisone (21.9%), colchicine (25.7%) and anakinra (44.4%), and were the group more often requiring additional immunosuppressive drugs.
CONCLUSIONS: The analysis of the largest single-center series of adult patients with undifferentiated autoinflammatory diseases identified and characterized different disease phenotypes and their therapeutic approaches. This study is expected to contribute to increase the awareness of physicians for an early identification of these conditions, and to provide the best known therapeutic options.