Ambiguous Clinical Findings Research Articles

Mesenteric Lipoma in a Child- A Case Report

Mesenteric lipomas are very rare intraperitoneal tumors in children. When symptoms like severe abdominal pain, constipation, repeated vomiting develop, they are brought into medical attention. Despite ambiguous clinical findings, a sonographic suspicion may be further strengthened by CT scan or MRI. However, diagnostic laparotomy with resection of the mass followed by histopathological evaluation may confirm the diagnosis. We report one such rare case of a mesenteric lipoma in an 8 years old girl which may well be among the first 25 cases of mesenteric lipoma in children reported worldwide. J Dhaka Med Coll. 2022; 31(2) : 258-263

Primary Ewing's sarcoma of the temporal bone: a rare case

SummaryEwing's sarcoma is a malignant, round cell tumor arising from the bones and primarily affecting children and adolescent. Involvement of the skull bones is rarely reported, constituting 1%-6% of the total Ewing's sarcoma cases. We describe a 33 years old male patient having Ewing sarcoma of the mastoid and petrous parts of temporal bone, whose clinical presentation mimicked mastoiditis with facial nerve palsy. We discuss the clinical and therapeutic course of an extensive primary Ewing sarcoma of the temporal bone and review this entity's literature in detail. The etiopathology of an acute peripheral facial palsy is often hard to identify. If the facial weakness starts together with symptoms suggesting an inflammatory process, the differential diagnosis may be focused first on diseases like herpes zoster oticus and a severe course of acute purulent otitis media. As an uncommon tumor of the temporal bone, physicians should consider Ewing's sarcoma in the differential diagnosis of children and adolescents who present with facial nerve paralysis. And in the case of ambiguous clinical findings, a surgical exposure of the middle ear is recommended.

Less Is More: Efficacy of Rapid 3D-T2 SPACE in ED Patients with Acute Atypical Low Back Pain

Emergency department (ED) patients with acute low back pain (LBP) may present with ambiguous clinical findings that pose diagnostic challenges to exclude cauda equina syndrome (CES). As a proof of concept, we aimed to determine the efficacy of a rapid lumbar spine (LS) magnetic resonance imaging (MRI) screening protocol consisting of a single 3D-T2 SPACE FS (3D-T2 Sampling Perfection with Application optimized Contrasts using different flip angle Evolution fat saturated) sequence relative to conventional LS MRI to exclude emergently treatable pathologies in this complex patient population. LS MRI protocol including a sagittal 3D-T2 SPACE FS pulse sequence was added to the routine for ED patients presenting with acute atypical LBP over a 12-month period. Imaging findings were categorically scored on the 3D-T2 SPACE FS sequence and separately on the reference standard conventional LS MRI sequences. Patients' symptoms were obtained from review of the electronic medical record. Descriptive test statistics were performed. Of the 206 ED patients who obtained MRI for acute atypical LBP, 118 (43.3 ± 13.5 years of age; 61 female) were included. Specific pathologies detected on reference standard conventional MRI included disc herniation (n = 30), acute fracture (n = 3), synovial cyst (n = 3), epidural hematoma (n = 2), cerebrospinal fluid leak (n = 1), and leptomeningeal metastases (n = 1), and on multiple occasions these pathologies resulted in nerve root impingement (n = 36), severe spinal canal stenosis (n = 13), cord/conus compression (n = 2), and cord signal abnormality (n = 2). The 3D-T2 SPACE FS sequence was an effective screen for fracture (sensitivity [sens] = 100%, specificity [spec] = 100%), cord signal abnormality (sens = 100%, spec = 99%), and severe spinal canal stenosis (sens = 100%, spec = 96%), and identified cord compression not seen on reference standard. Motion artifact was not seen on the 3D-T2 SPACE FS but noted on 8.5% of conventional LS MRI. The 3D-T2 SPACE FS sequence MRI is a rapid, effective screen for emergently actionable pathologies that might be a cause of CES in ED patients presenting with acute atypical LBP. As this abbreviated, highly sensitive sequence requires a fraction of the acquisition time of conventional LS MRI, it has the potential of contributing to increased efficiencies in the radiology department and improved ED throughput.

Abdominal lymphadenopathy: An atypical presentation of enteric fever

This is a case report of a patient who presented to the Aga Khan University Hospital with generalized abdominal lymphadenopathy and high-grade fever. Due to ambiguous clinical findings, which were suggestive of either abdominal tuberculosis, or a lymphoma, the patient was started on empirical anti-tuberculous treatment due to the endemicity of tuberculosis in this region. The blood culture reports, however, were reported to grow colonies of Salmonella paratyphi A; thus the diagnosis of the patient was changed to enteric fever, and the patient improved on the subsequently started therapy of ceftriaxone 2000 mg bid. To the best of our knowledge, this is the first reported case of a patient suffering from enteric fever whose primary clinical findings were abdominal lymphadenopathy and fever.

Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE

BackgroundMany myopathies share clinical features in common, and diagnosis often requires genetic testing. We ascertained a family in which five siblings presented with distal muscle weakness of unknown etiology.MethodsWe performed high-density genomewide linkage analysis and mutation screening of candidate genes to identify the genetic defect in the family. Preserved clinical biopsy material was reviewed to confirm the diagnosis, and reverse transcriptase PCR was used to determine the molecular effect of a splice site mutation.ResultsThe linkage scan excluded the majority of known myopathy genes, but one linkage peak included the gene GNE, in which mutations cause autosomal recessive hereditary inclusion body myopathy type 2 (HIBM2). Muscle biopsy tissue from a patient showed myopathic features, including small basophilic fibers with vacuoles. Sequence analysis of GNE revealed affected individuals were compound heterozygous for a novel mutation in the 5' splice donor site of intron 10 (c.1816+5G>A) and a previously reported missense mutation (c.2086G>A, p.V696M), confirming the diagnosis as HIBM2. The splice site mutation correlated with exclusion of exon 10 from the transcript, which is predicted to produce an in-frame deletion (p.G545_D605del) of 61 amino acids in the kinase domain of the GNE protein. The father of the proband was heterozygous for the splice site mutation and exhibited mild distal weakness late in life.ConclusionsOur study expands on the extensive allelic heterogeneity of HIBM2 and demonstrates the value of linkage analysis in resolving ambiguous clinical findings to achieve a molecular diagnosis.

Echocardiography in lone atrial fibrillation.

Twenty-seven consecutive patients with suspected lone atrial fibrillation were studied by M-mode echocardiography. Echocardiography disclosed structural or functional cardiac abnormalities in only two (12%) of 17 patients without any sign of underlying heart disease by history or physical examination, whereas an accompanying or underlying cardiac disorder was found in 6 (60%) of 10 patients with ambiguous clinical findings. It is concluded that echocardiography is of minor value in patients with lone atrial fibrillation if symptoms and signs of other cardiac disorders are totally absent, but the presence of even minor or ambiguous clinical abnormalities seems to be a clear indication for echocardiography in these patients. It is, however, emphasized that echocardiography appears to guide the clinical management in less than 20% of patients with clinically suspected lone atrial fibrillation.

Upper extremity peripheral neuropathies: role and impact of MR imaging on patient management

To investigate the role of MR imaging (MRI) in the evaluation of peripheral nerve lesions of the upper extremities and to assess its impact on the patient management. Fifty-one patients with clinical evidence of radial, median, and/or ulnar nerve lesions and unclear or ambiguous clinical findings had MRI of the upper extremity at 1.5 T. MR images and clinical data were reviewed by two blinded radiologists and a group of three clinical experts, respectively, with regard to radial, median, and/or ulnar nerve, as well as muscle abnormalities. MRI and clinical findings were correlated using Spearman's (p) rank correlation test. The impact of MRI on patient management was assessed by the group of experts and ranked as "major," "moderate," or "no" impact. The correlation of MRI and clinical findings was moderate for the assessment of the median/radial nerve and muscles (p = 0.51/0.51/0.63, respectively) and weak for the ulnar nerve (p = 0.40). The impact of MRI on patient management was assessed as "major" in 24/51 (47%), "moderate" in 19/51 (37%), and "no" in 8/51 (16%) patients. MRI in patients with upper extremity peripheral neuropathies and unclear or ambiguous clinical findings substantially influences the patient management.

Neonatal hip instability: a prospective comparison of clinical examination and anterior dynamic ultrasound

Ultrasound is increasingly being used to complement the clinical examination in assessing neonatal hip instability. The clinical examination, although highly sensitive in detecting hip instability, can lead to considerable overtreatment. To compare anterior dynamic ultrasound and clinical examination in the assessment of neonatal hip instability and regarding treatment rates. 536 newborn infants (out of a population of 18,031) were selected, on the basis of a combination of risk factors, clinical signs of hip instability or ambiguous clinical findings, to undergo an anterior dynamic ultrasound examination of the hip, by a method developed by our group. This examination, performed by one out of seven experienced examiners, was compared with the standard clinical hip examination conducted by one of four pediatric orthopedic surgeons. The clinical examination was carried out both prior to and within a few hours after the ultrasound examination. The clinical examination diagnosed 81.7% of the hips as normal, 14.5% as unstable, and 3.8% as dislocatable or dislocated. With the dynamic ultrasound method, the corresponding figures were 87.8%, 10.4%, and 1.8%, respectively. Use of the criteria of the clinical examination resulted in treatment of 147 infants. Using the dynamic ultrasound examination as a criterion meant that 87 infants would receive treatment. The calculated treatment rate was 0.85% when based on the clinical stress test and 0.49% when based on the dynamic ultrasound. The dynamic ultrasound results reduced the treatment rate by over 40% when used as a basis for the decision regarding treatment.