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.

Virtut Velmishi

Dritan Alushani

Ermira Dervishi

Saimir Heta

Spiro Sila

Paskal Cullufi

Delayed Diagnosis of Congenital Duodenal Stenosis in a 16-Year-Old Girl

Situs inversus totalis (SIT) is a rare medical condition characterized by a complete mirror-image reversal of the normal positioning of the internal organs. Aristotle initially described situs inversus in animals, while Fabricius first characterized it in humans. Although the specific cause is uncertain, there is evidence of autosomal recessive and X-linked inheritance. Before seeking treatment for an unrelated ailment, many people with SIT are unaware of their distinct anatomy, as in our case. The presented case is a 30-year-old female patient from Central Ethiopia, presented to Hakim Gizaw Teaching Hospital outpatient department of medicine with the complaint of right-sided anterior chest pain for five days. Clinically, the apical beat was heard in the right 5th intercostal space. After undergoing an electrocardiogram (ECG), echocardiogram, chest X-ray, and abdominal ultrasound, she was diagnosed with situs inversus totalis. The clinical implications of SIT encompass challenges in diagnosis and procedures, potential congenital cardiac abnormalities, considerations for organ transplantation, and clinical decision-making, particularly in emergency scenarios. Key Clinical Messages. This case highlights the clinical implications of dextrocardia with situs inversus totalis, emphasizing the importance of awareness for accurate diagnosis, procedural challenges, and informed clinical decision-making. Understanding this rare condition is crucial for providing appropriate medical care and to navigate potential complications in affected individuals.

Girma Deshimo

Haile Abebe

Getiye Damtew

Enguday Demeke

Seife Feleke

A Case Report of Dextrocardia with Situs Inversus: A Rare Condition and Its Clinical Importance

Immune checkpoint inhibitors (ICI) are monoclonal antibodies that target immune checkpoint inhibitory receptors. They have revolutionised cancer treatment but can be associated with a wide range of adverse side effects. Rarely, they can be associated with the triad of myositis, myasthenia gravis, and myocarditis or overlap syndrome. Prompt recognition and early intervention are needed to treat these potentially life-threatening conditions. We report a case series of patients with ICI-related overlap syndrome, including the first with avelumab, and discuss the current management guidelines.

Nikhil Aggarwal

Diletta Bianchini

Rosemeen Parkar

Jennifer Turner

Immunotherapy-Induced Overlap Syndrome: Myositis, Myasthenia Gravis, and Myocarditis—A Case Series

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.

Ahmad Rezaee Azandaryani

Amir Mohammad Salehi

Misleading Rare Case of Idiopathic Hypertrophic Pachymeningitis

We report a case of Klebsiella pneumoniae invasive liver abscess syndrome (KPILAS) with endophthalmitis-caused blindness as the first symptom after enema. The patient had diabetes, and his blood glucose was poorly controlled. She developed hematuria after four enemas for cosmetic purposes and later became blind. The eye discharge was cultured, which revealed a Klebsiella pneumoniae infection. B ultrasound did not show liver lesions, but computed tomography exhibited abscesses in the right lobe of the liver. Magnetic resonance imaging of the head indicated abscesses. These confirmed the diagnosis of invasive liver abscess syndrome. The patient was given ophthalmic and systemic anti-infection treatments, and her condition was effectively controlled. Unfortunately, the diseased eye still needed to be removed. This case underlines the necessity of avoiding unnecessary risky procedures (such as enemas) in vulnerable populations, the importance of early detection of invasive liver abscess syndrome, and the advantage of computed tomography in detecting liver abscesses.

Qi Jin

Xinrui Zhang

Huifen Yang

Bo Zhao

Yubao Wang

Blindness in Right Eyes after Enema: A Case of Klebsiella pneumoniae-Related Invasive Liver Abscess Syndrome with Endophthalmitis-Caused Blindness as the First Symptom

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.

Mirgul Bayanova

Aigerim Abilova

Alisa Nauryzbayeva

Zhibek Turarbekova

Delayed Diagnosis of Perrault Syndrome: A Rare Genetic Disorder

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Case Reports in Medicine publishes case reports and case series in all areas of clinical medicine.

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Case Reports in Medicine - Table of contents 2024

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Case Reports in Medicine publishes case reports and case series in all areas of clinical medicine.

Case Reports in Medicine