Congenital right optic nerve colobomatous cyst associated with microphthalmos.

Optic nerve coloboma is a congenital defect caused by the incomplete closure of the embryonic fissure. This closure begins around the fifth week of gestation, when the embryo measures approximately 7 to 14 mm. Colobomas may appear as isolated defects or alongside other ocular and systemic abnormalities. They typically occur in the inferonasal quadrant, where the optic vesicle undergoes closure. This closure process starts centrally within the eye and progresses both anteriorly and posteriorly. The distinct nature of these closures can result in an optic nerve coloboma without an associated iris coloboma. The formation of a coloboma can be attributed to external factors affecting the fetus during pregnancy or to a genetic mutation, such as an autosomal dominant mutation in the Pax gene, which is linked to bilateral colobomas. Small colobomas generally require only clinical and radiological observation, whereas larger colobomas may need surgical intervention to remove the cyst and prevent complications related to orbital content development, thereby improving cosmetic outcomes.

Pain in the back after a brain trauma-The revelation of a spinal subdural hematoma: A case report with a literature review.

Traumatic spinal subdural hematoma is a rare condition mostly favored by an anticoagulation therapy, a traumatic lumbar puncture, a hematologic disease, or an epidural anesthesia. This pathological condition can be subtle or be at the origin of a compression of the spinal cord and the rootlets resulting in an irreversible damage if an emergent surgery is not performed. We report the case of a 45-year-old man who has been a victim of a brain trauma which resulted in a cerebral edema. A week later, the patient came to the emergency department for disabling abdominal pain, predominant in the back. An abdominal computed tomography was performed and showed an incidentally spontaneous hyperdensity in the spinal cord, which raised the suspicion of a spinal hematoma that has been confirmed through spine magnetic resonance imaging. In this case, we discuss the different subtypes of spinal hematoma. We recall the main differential diagnoses to help setting an accurate diagnosis and to not delay the adequate therapy that is most of the time emergent when indicated.

Solitary plasmacytoma of the rib: A rare tumor to keep in mind: Case report.

Around 5% of plasma cell neoplasias are solitary plasmacytomas, a tumor that is fairly rare. The presence of a localized tumor composed of monoclonal plasma cells that are the same as those found in multiple myeloma and the absence of symptoms that would suggest a disseminated form are used to establish the diagnosis. The thoracolumbar spine is the area most affected. Costal origin is infrequently described. In our case, the patient manifested a right anterosuperior chest wall mass. Imaging showed a mass of tissue with a significant zone of osteolysis of the first rib and no chest wall infiltration. Blood protein immunoelectrophoresis disclosed a monoclonal kappa type IgG. Bence-Jones proteinuria was positive, further suggesting a plasmacytoma of the rib. A percutaneous needle biopsy for pathology study and immunohistochemistry enabled the diagnosis of costal plasmacytoma. Search for other localizations was negative and the diagnosis of solitary plasmacytoma was retained. The patient received radiotherapy and has remained in remission for over a year. The pathology and imaging findings are used to make the diagnosis. Radiotherapy is the therapy of choice, but it presents a risk of progression to other bone lesions, medullary plasmacytosis, and multiple myeloma. There are no known factors that predict systemic recurrence. Surveillance is essential on a regular basis.

Achilles swelling and ataxia in an adolescent: A case report of cerebrotendinous xanthomatosis.

Cerebrotendinous xanthomatosis (CTX) is a rare hereditary disease characterized by a bile acid metabolic problem that causes cholesterol metabolites to accumulate in various organs. There are 2 types of CTX: traditional and spinal. The imaging characteristics are usual and allow for diagnosis confirmation. The brain's magnetic resonance imaging (MRI) reveals bilateral dentate nucleus lesions as well as modest white matter abnormalities. Tendon xanthomas (typically in the Achilles tendons on both sides) are a common finding. Cerebrotendinous xanthomatosis is a multidisciplinary diagnosis that must be made early to avoid neurologic injury and worsening. We show a CTX instance that has typical imaging and biology features.

Low back pain indicative of psoas muscle metastasis and bronchopulmonary cancer.

Muscle metastases of bronchopulmonary cancer are rare, notably when they are revealing. They can affect all muscles of the body with a predominance of psoas, diaphragmatic and para-vertebral muscles. We report a case of psoas muscle metastasis revealing bronchopulmonary cancer in a 40-year-old patient with a long history of smoking (30 packs of cigarettes/year) presenting a chronic left low back pain with asthenia and weight loss (15 kg/year). The clinical examination was unremarkable. An abdominal computed tomography scan showing a retroperitoneal mass at the expense of the left psoas muscle, lysing the L2 vertebral and left pedicle with intraspinal extension. A complement by cervico-thoracic computed tomography scan showed a lung mass with hilar and mediastinal lymphadenopathy. A scan-guided biopsy puncture of the psoas muscle mass identified its metastatic origin. The clinical picture is often deceptive leading to diagnostic and therapeutic delay, hence the interest of the imagery as well as histological confirmation is recommended.

[Plexiform cervical neurofibroma: about a case]. / Neurofibfrome plexiforme cervical: à propos d'un cas.

Plexiform neurofibroma is a rare benign tumor of the peripheral nerves involving the conjunctiva cells of the perineurium. It is pathognomonic of neurofibromatosis type1 (NF1 or Von Recklinghausen disease). MRI is a great help in the diagnosis of this pathology. Anatomopathological confirmation is sometimes necessary, in particular in patients with no signs of NF1. We here report the case of a little girl with cervical plexiform neurofibroma revealing neurofibromatosis type 1.

[Fahr syndrome secondary to primary hypoparathyroidism: about a case]. / Syndrome de Fahr secondaire à une hypoparathyroïdie primaire: à propos d'un cas.

Fahr syndrome is a rare anatomo-clinic disease whose most common cause is primary or postoperative hypoparathyroidism. It is characterized by bilateral and symmetrical intracerebral calcifications located in the central gray nuclei, most often associated with phosphocalcium metabolism disorders. We here report the case of a 54-year old patient who had been treated for primary hypoparathyroidism for 20 years, presenting with amnesic disorders revealing Fahr syndrome secondary to hypoparathyroidism.

An unusual presentation of neurosarcoidosis with progressive hearing loss.

Sarcoidosis is a granulomatous disease of unknown etiology that can involve several organ system. Neurological manifestations are not common and mostly include cranial neuropathies. However, auricular disorders are rare and exceptionally inaugural. We describe the case of a 46-year-old lady presented with hearing loss as the initial manifestation of sarcoidosis, and aim to raise awareness of this condition, that is often associated with significant morbidity.