Case Reports in Medicine最新文献

Dravet syndrome is a rare and severe form of epilepsy that usually emerges in infancy. It is characterized by diverse seizure patterns, cognitive regression, motor impairments, and behavioral abnormalities. The majority of patients with this condition have mutations involving the voltage-gated sodium channel alpha (I) gene SCN1A. We present a detailed account of a two-year-old child with a history of recurrent seizures since the age of 4 months. Genetic testing was performed which revealed a heterozygous pathogenic variant, confirming the diagnosis. The patient was managed successfully by a multidisciplinary approach involving neurologists, developmental specialists, and physical therapists.

Background: Duodenal atresia or stenosis are different degrees of the same abnormality. They usually occur at the level of the ampulla of Vater and are thought to be an embryologic defect during the development of the foregut, leading to abnormal recanalization. Complete duodenal atresia is usually symptomatic in the early neonatal period, while partial obstruction (web, stenosis) may have a late presentation and a more challenging diagnosis such as in our case. Case Presentation. The patient, a 16-year-old girl, presented with abdominal pain, recurrent vomiting, and growth failure. An upper GI study with barium showed an image compatible with gastroptosis. Further diagnostic procedures confirmed a rare finding such as congenital duodenal stenosis. She underwent surgical intervention, and the recovery period was uneventful.

Conclusion: Gastroptosis is not diagnostic for a particular disease. This rare radiological finding in children may obscure uncommon diagnosis, such as congenital duodenal stenosis, which can present a diagnostic challenge beyond early childhood.

Idiopathic hypertrophic pachymeningitis (IHP) is a rare disease with diffuse thickening of the dura mater that has no specific clinical symptoms and manifestations and it causes neurosurgeons to misdiagnose. A 4-year-old girl presented at the emergency room of our hospital with speech difficulty and severe headache. Head computed tomography scans (CT scan) on admission revealed a large fluid collection over the right temporoparietal region with mass effect, and the neurosurgeon drained it with the initial diagnosis of subdural hematoma. However, the postoperative CT scan demonstrated the failure of surgical drainage; therefore, magnetic resonance imaging (MRI) was requested for the patient. MRI identified diffuse nodular dural thickening with internal septations and different internal hemorrhagic stages on the right side with no evidence of brain parenchymal involvement and according to the serology and autoimmune screening tests, and IHP was diagnosed for the patient. The patient underwent craniotomy. There was an immediate improvement of neurologic symptoms. The patient had good clinical and radiologic outcome at 3 -months follow-up. IHP should be part of the differential diagnosis of some cases of noncommunicating hydrocephalus; however, the rarity of the disease and the absence of specific clinical symptoms make the diagnosis difficult.

Perrault syndrome (PRLTS) is a rare autosomal recessive disorder which is associated with pathogenic variants in HSD17B4, HARS2, CLPP, LARS2, GGPS1, RMND1, TWNK, ERAL1, and PRORP genes. The disease is characterized by sensorineural hearing loss, sometimes with neurological signs, including progressive sensory and motor peripheral neuropathy, cerebellar ataxia, mild mental retardation, and ovarian dysgenesis in females. In this article, we report a case of a child diagnosed with spastic diplegic cerebral palsy. Determination of the segregation status of the parents of a proband with a rare compound heterozygote in the gene HSD17B4 will help the genetic counselling for the prognosis of Perrault syndrome in the family.

This article presents a case of spontaneous autoamputation of ovary in a 46-year-old nulligravid woman with a history of rheumatoid arthritis and hypertension, who presented with secondary amenorrhea and white vaginal discharge. Despite an initial diagnosis of dermoid cyst based on ultrasound findings, subsequent laparoscopic surgery revealed a necrotized oval-shaped mass in the cul-de-sac, which was identified as the right ovary that had undergone torsion and autoamputation. This case highlights the diagnostic and therapeutic challenges associated with this uncommon presentation, which may be easily misdiagnosed. Clinicians should consider spontaneous autoamputation of ovary as a potential differential diagnosis in women presenting with adnexal masses, even if there is no prior history of abdominal pain.

Background: Chronic subdural hematoma is a common disease in neurosurgery, but organized chronic subdural hematoma is rarely seen clinically. This article reports a case of misdiagnosis of organized chronic subdural hematoma as acute epidural hematoma. Through literature review, the causes of misdiagnosis and the treatment methods of organized chronic subdural hematoma are discussed. Case Description. A 70-year-old male patient was admitted to the hospital due to headache and dizziness after head trauma. Emergency head CT reported "left frontotemporal parietal epidural hematoma." Because the head CT showed that the hematoma occupying effect was obvious, an emergency "intracranial hematoma evacuation" was performed. After opening the skull during the operation, no epidural hematoma was seen. Upon incision of the dura mater, the outer membrane of organized chronic subdural hematoma was found. When the outer membrane was cut open, a large amount of reddish-brown silt-like materials was found in the capsule cavity. The inner membrane was not forcibly removed. Postoperative head CT showed that the organized chronic subdural hematoma was basically cleared.

Conclusion: The early symptoms of organized chronic subdural hematoma are atypical, with insidious onset and easy misdiagnosis. By carefully inquiring about the medical history and carefully reading the head CT, such misdiagnosis can be avoided. Craniotomy is currently an important treatment option for organized chronic subdural hematoma.