International Journal of Case Reports

  • SYNGAP1 Mutation in absence Epilepsy with eyelid myoclonia: A Literature Overview and A Case Report from Qatar

    Background: SYNGAP1, which encodes a RAS-GTPase-activating protein, is located on the short arm of chromosome 6.Mutations of the SYNGAP1 gene were first identified in 2009 in patients with nonsyndromic intellectual disability (ID) acquired microcephaly, and autism spectrum disorder (ASD), followed in 2013 by recognition of their important role in the developmental and epileptic encephalopathies (DEEs). Developmental delay was identified soon after birth in the majority of patients and pre-ceded seizure onset in all. Development regressed or plateaued with seizure onset were observed. Language was severely impaired together with intellectual disabilities and some other features (1, 4).Most affected individuals have de novo mutations, with truncating mutations predominating, although missense mutations, chromosomal translocations, or microdeletions disrupting SYNGAP1 are also described. (1,5).

  • Acute cauda equina syndrome due to lumbar spinal stenosis caused by prolonged supine position during cardiac catheterization: a case report

    Background: Cauda equina syndrome (CES) is a severe neurologic condition marked by progressive loss of function of the neurologic elements in the spinal canal below the termination of the spinal cord. This article reports an instructive case of CES with acute aggravation of neuropathy after catheter ablation for atrial fibrillation. Patient concerns: A 63-year-old Japanese man underwent catheter ablation for atrial fibrillation. Because he complained of severe low back pain and numbness in the posterior of both lower limbs while in the supine position, he was given analgesia with pentazocine and sedated with propofol, and the procedure continued. He was then forced to maintain lumbar extension while in the supine position for 13 hours. After the treatment, he noticed urination disor-der, numbness, and paralysis of both lower limbs. Diagnosis: Neurological findings included sensory impairment and motor deficit of L5 and below, including bowel/bladder dysfunction. Lumbar magnetic resonance imaging showed severe lumbar spinal stenosis at L4-L5. He was diagnosed with CES due to lumbar spinal stenosis. Interventions: The patient received emergency surgery for L4-L5 decompression. Decompression of the spinal canal was achieved 33 hours after the start of catheterization. Outcomes: The patient’s leg symptoms improved immediately after surgery, and he was able to walk with a walker. On postoperative day 6, the urinary catheter was removed. However, he experienced urinary retention and needed intermittent self-directed urination. Five months after surgery, he was able to urinate on his own, and completed the intermittent self-directed urination. Nine months after surgery, his muscle strength had recovered almost completely, and he was able to walk with a cane. However, bladder dysfunction such as frequent urination and residual urination remained 4 years after surgery. Lessons: If the supine position elicits low back pain and leg numbness, the presence of lumbar spinal stenosis should be considered. Forcing…

  • Deletion of 15q26.1 region with absence epilepsy respond to valproic acid: A Literature Overview and A Case Report from Qatar

    Chromosomal abnormalities involving deletions and duplications are known to cause severe developmental disorders, including mental retardation, dysmorphism, and seizures, in children. As the technique of array-based comparative genomic hybridization is being applied more frequently in the diagnostic evaluation of children with developmental disorders; novel pathologic chromosomal abnormalities are being identified in relation to various type of epilepsies in childhood. We report the case of a 4-year-old girl with a history of speech delay and communication disorder, mild dysmorphic features, and absence epilepsy with a de novo microdeletion 15q26.1. A much larger (5 Mb) but overlapping microdeletion has been previously reported in similar several cases with similar phenotype including intractable myoclonic and absence epilepsy, growth delay, and dysmorphic features. This leads us to propose that a potential candidate gene or genes within the deleted region involved in the pathogenesis of some forms of generalized intractable epilepsy, previously considered idiopathic should consider genetic study for childhood epilepsies especially if it was associated with underlying developmental delay in any particular aspect as speech delay in our case.

  • Delayed traumatic cardiac tamponade: An extremely rare sequela of blunt trauma

    To our knowledge, there have been minimal information on the delayed traumatic cardiac tamponade, which is an extremely rare but a life-threatening condition if not treated promptly. We present a 25-year-old female who had cardiac tamponade of delayed onset after a motor vehicle crash. It was found on a computed tomography scan of the chest, and confirmed on subsequent echocardiography. Urgent operation of creation of pericardial window was performed. She made a good recovery after the operative intervention. The current report emphasises the importance of having high index of suspicion in patients with non-penetrating multi-trauma with careful observation and appropriate investigations.

  • A challenging diagnosis in a patient with Odynophagia

    Tuberculous retropharyngeal abscesses are rare but potentially life-threatening manifestations of tuberculosis. We present herein a case of an 18-year-old male patient, a migrant from Somalia, accusing fever, odynophagia and neck pain. CT scan and MRI study of the neck showed a retropharyngeal and prevertebral abscess from C1 to D1 with the involvement of epidural space and spondylitis. Resolution of the abscess with few signs of residual spondylitis was achieved after surgical evacuation and antitubercular treatment.

  • Acute Demyelinating Encephalomyelitis (ADEM) following rabies vaccination

    Acute disseminated encephalomyelitis (ADEM) is an inflammatory demyelinating disease of the central nervous system (CNS). Its diagnosis can be challenging due to having varied clinical presentations, including a range of motor, speech, cognitive, and behavioral changes that can vary in frequency and intensity, and there being no strictly defined diagnostic criteria for it in adults. Here we present a 58-year-old White male who developed ADEM following an uncommon cause (i.e., rabies vaccination), which was difficult to diagnose due to atypical manifestations.

  • Fibromyalgia as A Sole First Presentation of Recurring Idiopathic Intracranial Hypertension in a child. A Case Report and Literature Review

    Idiopathic intracranial hypertension (IIH) is a condition characterized by raised intracranial pressure (ICP) with no evidence of brain pathology, also known as pseudo tumor cerebri. Headache and visual obscuration are the most common presenting symptoms for IIH with a frequency of (68-84%) respectively. Other symptoms of IIH include neck pain, back pain, and radicular pain in the arms and legs resulting from increased spinal pressure and forced filling of the spinal nerves with CSF. Case summary: We present an 11-year-old boy known to have chronic kidney disease stage II, due to obstructive uropathy. He had a history of Idiopathic intracranial hypertension that was treated completely and condition resolved, then presented with generalized pains and aches without headaches or visual symptoms and found to have IIH for the second time, the symptoms resolved with appropriate treatment. Conclusion: Widespread pain and several other characteristics of IIH share similarities with characteristics of fibromyalgia (FM) and chronic fatigue syndrome (CFS), two overlapping chronic pain conditions.

  • Mesothelial Cyst in a Young Female: Case report and literature review

    Mesenteric cysts are rare intra-abdominal benign tumors (1 in 100,000 cases in adults) with various clinical presentations. [1,2] They commonly originate from the small bowel mesentery, although a proportion has been found to originate from the mesocolon, and retroperitoneum. [1,3] The formation of mesenteric cysts depends on the histologic origin, where they could be classified into cysts of lymphatic origin, cysts of mesothelial origin, cysts of enteric origin, cysts of urogenital origin, dermoid cysts and pseudocysts. [4,5] Diagnosis is extremely difficult since. The Mesenteric cyst is usually asymptomatic, but if symptomatic, abdominal pain (82%), nausea and vomiting (45%), constipation (27%) are the most common presenting symptoms. [2,3] The clinical finding of abdominal mass is encountered in more than 61% of the patients. [2,3]. As this condition is very rare and its symptomatology can resemble any other abdominal diseases, diagnosis is extremely difficult and incorrect preoperative diagnosis is often made. Hence, performing physical examination and conducting radiological investigations such as ultrasonography (USG) and computed tomography (CT) are important in making a correct diagnosis. [2,3] As well as cases of mesothelial cysts, they are typically asymptomatic but occasionally, their symptoms are vague and non-specific. [6,7] As mentioned above, imaging modalities such as USG, CT and magnetic resonance imaging (MRI) are great in identifying the character, size, location, surrounding tissues and the wall and content of the cysts. [7] Surgery is the treatment of choice, as a complete resection with negative borders is curative and often prevents recurrence. [3] We report a case of a young female patient who presented with a vague abdominal symptoms and a large cystic mass in lower abdomen. After proper evaluation, surgical exploration revealed a large simple mesothelial cyst.


    CALR mutations, together with JAK-2 and MPL ones, are recognized as “driver” mutations in Philadelphia-negative chronic myeloproliferative neoplasms (MPNs). Most frequent CALR mutations are Type-1 deletions (45-55% of cases) and type-2 insertion (32-42% of cases). These mutations are usually associated with younger age, higher platelet counts, lower leukocyte counts, lower hemoglobin levels and a higher incidence of transformation from ET to MF. Recognizing and describing cases with different mutations can be useful to create a database that might help clinicians to include these patients in risk categories and to guide the appropriate therapeutic choices. We report a case of a 77-years old woman who presented a new type-2 like CALR mutation.

  • Seckel Syndrome & Skull Morphology: Quantifying Characteristics

    Seckel Syndrome is a rare genetic disorder which causes morphological changes throughout the body. Some of the most commonly reported changes are those present within the cranium and mandible such as microcephaly, a beak-like nose with convex nasal ridge, and mandibular deformities such as micrognathia. However, these clinical terms provide insufficient information to allow for proper diagnosis or to understand the distortions in physiology that take place with the disease. Therefore, quantification of the features of the skull are necessary to further explain this pathology, and comparisons to normal variation will help to understand the degree to which the anatomy is affected. Seckel Syndrome is classified as a member of the microcephaly family of pathologies; however, our results demonstrate that the overall volume of the skull is not as significantly decreased as the cranial vault itself, which may provide the catalyst for Chiari Type I malformations. The mandible, likewise, is severely altered by Seckel Syndrome decreases in approximately 44% of its volume and demonstrating altered physical proportions. Finally, the osteological measurements of the facial features demonstrated inconsistent findings between different anatomical structures providing evidence that Seckel Syndrome may have a variable effect on the different bones and tissues of the skull.