Craniotubular dysplasia, Ikegawa type (CTDI), is an ultra-rare sclerosing bone disorder associated with pathogenic mutations in the TMEM53 gene. The condition disrupts the negative regulation of ossification, leading to progressive skeletal abnormalities, short stature, and early-onset visual impairment secondary to optic nerve compression. Since its initial description in 2021, only a limited number of cases have been reported, nearly all presenting in childhood. Adult-onset disease remains exceptionally rare and poorly characterized. In this report, we describe a 38-year-old Bahraini gentleman with a 10-year history of progressive left-sided numbness, severe musculoskeletal and back pain, gait disturbance, and unilateral blindness. His presentation was insidious with a gradual neurological decline and predominant spinal manifestations attributable to spinal pathology, which is an atypical presentation compared to previously reported cases that primarily presented with craniofacial involvement. Magnetic resonance imaging (MRI) demonstrated long-segment cervical canal stenosis with spinal cord compression and edema, Schmorl's nodes, thoracic disc bulges, and lumbar canal stenosis. Despite undergoing two spinal decompression surgeries, his neurological symptoms persisted. Comprehensive genetic evaluation, including whole-exome sequencing, identified two novel rare missense variants in TMEM53 (p.Ala145Pro and p.Pro211Thr) in a compound heterozygous state, establishing the diagnosis of craniotubular dysplasia, Ikegawa type (CTDI), and expanding its allelic spectrum. This case broadens both the phenotypic and genotypic spectrum of CTDI. It provides the most detailed spinal imaging description of this disorder to date and highlights an unusual adult-onset presentation with predominant spinal involvement and unilateral blindness.

Purpose: To report a case of POEMS syndrome presenting with unilateral optic disc edema and unexpectedly low systemic vascular endothelial growth factor (VEGF) levels in the setting of contralateral intravitreal (IVT) anti-VEGF therapy. Methods: A single case was reviewed. Results: A 65-year-old man with branch retinal vein occlusion in the right eye receiving IVT anti-VEGF injections presented with optic disc edema in the left eye. Systemic symptoms included skin hyperpigmentation; shortness of breath; and peripheral neuropathy characterized by numbness, tingling, swelling, and weakness of his extremities. Imaging demonstrated pachymeningeal enhancement, mixed sclerotic and lytic bone lesions, lymphadenopathy, and splenomegaly. Laboratory evaluation workup revealed a monoclonal gammopathy, and lymph node biopsy findings were consistent with the plasma cell variant of Castleman disease, supporting a diagnosis of POEMS syndrome. Notably, systemic VEGF levels were unexpectedly low (8.7 pg/mL, normal <96.2 pg/mL), likely secondary to the IVT anti-VEGF injection. Conclusions: This case highlights an atypical presentation of POEMS syndrome with unilateral disc edema and suppressed systemic VEGF levels, potentially confounded by contralateral IVT anti-VEGF treatment. Awareness of this interaction is important for accurate interpretation of VEGF levels and timely diagnosis.

This report presents a case of unilateral retinitis pigmentosa (URP) with associated symptoms and microphthalmia in the right eye of a young female patient. A 23-year-old with a previous diagnosis of URP and a constricted visual field in one eye was examined. Slit lamp examination of the right eye revealed a moderate posterior subcapsular and mild nuclear sclerotic cataract, with a clear lens in the left eye. Funduscopic examination of the right eye showed diffuse retinal pigmentary epithelium atrophy with peripheral bone spicule pigmentation, cystoid macular edema, and glial clusters protruding from the optic nerve. Left eye fundoscopy revealed unremarkable retinal findings. Fundus autofluorescence, optical coherence tomography, Humphrey visual field, and full-field electroretinogram testing indicated compatible results with our funduscopic findings of URP. Axial length (AL) measurements and anterior chamber angle assessment by gonioscopy suggested microphthalmia of the right globe. The left eye was shorter than average but within normal limits. Salivary genetic testing revealed genetically sensitized retinae carrying heterozygous variants in the INPP5E, FSCN2, RP1L1, and WFS1 genes. The patient is a carrier of a pathogenic variant of INPP5E, while the significance of the other identified variants is uncertain. This case report showcases the unique presentation of URP, glial tissue abnormality, and microphthalmia, suggesting a potentially shared genetic link between retinal pigmentary degeneration and malformation of other ocular structures. Further study is required to understand any shared genetic and/or proteomic etiology. These discoveries may aid in possible future treatment modalities for retinal cilioretinopathy disease and related disorders.

Osteoporosis is a major complication of rheumatoid arthritis (RA), caused by glucocorticoid use and chronic inflammation, leading to an increased fracture risk. We report a rare case of bilateral insufficiency calcaneal fractures presenting with talalgia and swelling in a patient with RA who was initially misdiagnosed as having a disease relapse and treated with escalated biological disease-modifying antirheumatic drugs. Subsequent foot magnetic resonance imaging (MRI) revealed bone marrow edema and bilateral fracture lines in the posterior calcaneus without synovitis. This case highlights that talalgia in patients with RA may reflect insufficiency fractures rather than disease relapse, and appropriate imaging evaluation is therefore important for an early and accurate diagnosis.

Rothia dentocariosa and Streptococcus intermedius are bacteria of the normal upper respiratory tract flora. To our knowledge, only three cases of a brain abscess due to Rothia dentocariosa have been reported. We present a 66-year-old man with a cerebellar abscess due to Rothia dentocariosa and Streptococcus intermedius. The patient had gradual worsening of dizziness with imbalance and binocular diplopia in the past 3 days prior to admission. Abnormal findings from the neurological examination were: horizontal and circular positional nystagmus on right and left gaze, torsional vertical nystagmus on downward gaze, skew deviation with slightly hypertropic right eye with cover-uncover correction, slightly smaller right palpebral fissure, mild right limb ataxia in the upper (more than the lower) limbs, dysdiadochokinesia in the left upper limb, and dysmetria in the right lower limb. A magnetic resonance imaging (MRI) scan showed a spherical lesion in the right cerebellar lobe and large surrounding oedema. On the third day of his admission, his temperature increased, he had nausea and a delusional episode. A repeat computed tomography (CT) brain scan showed an increase in the surrounding oedema. The patient underwent a unilateral suboccipital craniectomy and drainage of the lesion. Based on cultures, the diagnosis was an abscess due to Rothia dentocariosa and Streptococcus intermedius. No source of infection was found. After the operation and a course of intravenous antibiotics, the patient's symptoms gradually improved. In conclusion, this is a rare case of a cerebellar abscess due to Rothia dentocariosa and Streptococcus intermedius.