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Frontiers in Surgery 2024Forearm compartment syndrome (CS) in children is above all a clinical diagnosis whose main cause is traumatic. However, rarer causes such as infection can alter its...
INTRODUCTION
Forearm compartment syndrome (CS) in children is above all a clinical diagnosis whose main cause is traumatic. However, rarer causes such as infection can alter its clinical presentation.
CLINICAL CASE
An 8-year-old boy has been seen in the emergency department complaining of severe forearm pain under a splint in a mild traumatic context. The previous radiological imaging examination three days before had not revealed any fractures. On admission, he presented with major signs of skin inflammation, loss of mobility, paresthesia and a significant biological inflammatory syndrome. The acute CS diagnosis has been made and was treated, but its atypical presentation raised a series of etiological hypotheses, in particular infectious, even if it remains rare. Complementary imaging examinations confirmed the presence of osteomyelitis of the distal radius as well as an occult Salter-Harris II fracture.
DISCUSSION
Beyond the classic "five P's of CS" -pain, paresthesia, paralysis, pallor and pulselessness-, CS's clinical presentations are multiple, especially in pediatric patients. In children, severe pain and increasing analgesic requirement must be indicators of a CS. We hypothesize that this patient sustained a nondisplaced Salter-Harris II fracture with a hematoma colonized by hematogenous osteomyelitis explaining its initial clinical presentation.
CONCLUSION
Hematogenous osteomyelitis complicated by CS is rare and may be accompanied by a traumatic history. It's atypical presentation in pediatric patients requires vigilance and prompt diagnosis given the disastrous and irreversible complications.
PubMed: 38812754
DOI: 10.3389/fsurg.2024.1370558 -
Translational Vision Science &... May 2024We sough to develop an automatic method of quantifying optic disc pallor in fundus photographs and determine associations with peripapillary retinal nerve fiber layer...
PURPOSE
We sough to develop an automatic method of quantifying optic disc pallor in fundus photographs and determine associations with peripapillary retinal nerve fiber layer (pRNFL) thickness.
METHODS
We used deep learning to segment the optic disc, fovea, and vessels in fundus photographs, and measured pallor. We assessed the relationship between pallor and pRNFL thickness derived from optical coherence tomography scans in 118 participants. Separately, we used images diagnosed by clinical inspection as pale (n = 45) and assessed how measurements compared with healthy controls (n = 46). We also developed automatic rejection thresholds and tested the software for robustness to camera type, image format, and resolution.
RESULTS
We developed software that automatically quantified disc pallor across several zones in fundus photographs. Pallor was associated with pRNFL thickness globally (β = -9.81; standard error [SE] = 3.16; P < 0.05), in the temporal inferior zone (β = -29.78; SE = 8.32; P < 0.01), with the nasal/temporal ratio (β = 0.88; SE = 0.34; P < 0.05), and in the whole disc (β = -8.22; SE = 2.92; P < 0.05). Furthermore, pallor was significantly higher in the patient group. Last, we demonstrate the analysis to be robust to camera type, image format, and resolution.
CONCLUSIONS
We developed software that automatically locates and quantifies disc pallor in fundus photographs and found associations between pallor measurements and pRNFL thickness.
TRANSLATIONAL RELEVANCE
We think our method will be useful for the identification, monitoring, and progression of diseases characterized by disc pallor and optic atrophy, including glaucoma, compression, and potentially in neurodegenerative disorders.
Topics: Humans; Optic Disk; Tomography, Optical Coherence; Software; Male; Female; Middle Aged; Deep Learning; Nerve Fibers; Photography; Adult; Retinal Ganglion Cells; Aged; Optic Nerve Diseases; Fundus Oculi
PubMed: 38780955
DOI: 10.1167/tvst.13.5.20 -
Clinical Case Reports May 2024Arterial rupture is one of the rare but known and devastating complications of the angiogram, which can ultimately lead to loss of limb and life. Therefore, it is...
KEY CLINICAL MESSAGE
Arterial rupture is one of the rare but known and devastating complications of the angiogram, which can ultimately lead to loss of limb and life. Therefore, it is recommended that this complication be included in the consent form and that the operator and the logistics team be prepared for this scenario. Moreover, categorizing the patients based on risk factors to be more cautious during the procedure for high-risk patients can be considered a reasonable strategy.
ABSTRACT
One of the rare but lethal complications of femoral artery catheterization for coronary angiography is arterial rupture, which can cause a range of negligible to massive retroperitoneal hemorrhage. This case presents a woman with unstable angina who underwent coronary catheterization. After arterial sheath placement, extravasation of blood from the right common iliac and lateral sacral arteries was seen, a diagnosis that has been reported rarely before. The bleeding was controlled with balloon inflation in the lateral sacral artery and a stent graft implantation in the right common iliac artery. The patient remained asymptomatic during the procedure and the short- and long-term follow-up. Interventional cardiologists and radiologists who access the femoral artery for any procedure should be aware of this possible event. Sometimes, this situation manifests with nonspecific symptoms such as weakness, lethargy, and pallor. Moreover, more logistical preparation and training are needed to overcome these unexpected conditions.
PubMed: 38770412
DOI: 10.1002/ccr3.8903 -
Cureus Apr 2024Congenital dyserythropoietic anemias (CDAs) are rare hereditary disorders, of which type II CDA is the most common. Mutations in the gene located on chromosome 20...
Congenital dyserythropoietic anemias (CDAs) are rare hereditary disorders, of which type II CDA is the most common. Mutations in the gene located on chromosome 20 result in this autosomal recessive disorder. In this case report, we present a case of CDA II with unique biopsy findings being detected via genetic testing. A female aged 30 years presented with major complaints of pallor weakness and easy fatiguability since childhood. The patient gave a history of 25 units of blood transfusion, the majority of which were transfused during pregnancy, followed by regular transfusions thereafter. On examination, all her vitals were in the normal range. Pallor, frontal bossing, and malocclusion of teeth were noted. Her laboratory workup showed the following: hemoglobin (Hb): 3.7 g/dl; mean corpuscular volume: 83 fl; mean corpuscular Hb: 29 g/dl; mean corpuscular Hb concentration: 34.9 g/dl; red cell distribution width: 30.4%; reticulocyte count (RC): 6.2%; corrected RC: 1.3%; lactate dehydrogenase: 441 IU/L; direct Coombs test/indirect Coombs test: negative; serum iron: 242 microgram/dl; transferrin saturation: 96.08%; ferritin: 1,880 ng/ml; and normal high-performance liquid chromatography and eosin-5'-maleimide binding test. The peripheral blood film showed normocytic normochromic anemia with anisopoikilocytosis in the form of a few spherocytes. No immature cells were seen. After obtaining the patient's consent, we performed a hereditary hemolytic anemia gene analysis test, which showed homozygous missense variation in exon 12 of the gene. The bone marrow examination showed hyperplasia in the erythroid series with dyserythropoiesis, and surprisingly, myelofibrosis grade I-II (WHO 2017) was also observed on biopsy. Patients with CDA type II generally present with variable degrees of anemia along with pallor, icterus, splenomegaly, gallstones, and iron overload. In our case, the diagnosis of CDA type II was made at an adult age. Also, evidence of myelofibrosis was noted in our case, making it worth reporting. The use of a hereditary hemolytic anemia gene analysis panel test came as a rescue for its exact diagnosis. This case report emphasizes the role of molecular genetic testing for early and accurate diagnosis, which, in turn, could help in appropriate treatment planning and proper genetic counseling. The prevalence of CDA type II is still vaguely known; hence, extensive workup of persistent anemias and proper follow-up would be beneficial.
PubMed: 38765414
DOI: 10.7759/cureus.58515 -
Cureus Apr 2024Uterine smooth muscle tumors of undetermined malignant potential (STUMPs) are an uncommon kind of uterine smooth muscle tumor. It is distinguished by histopathologic and...
Uterine smooth muscle tumors of undetermined malignant potential (STUMPs) are an uncommon kind of uterine smooth muscle tumor. It is distinguished by histopathologic and morphologic characteristics that are in between those of a benign leiomyoma and a malignant leiomyosarcoma. From a clinical standpoint, the clinical presentation of STUMP is similar to that of a fibroid. The diagnosis is usually confirmed after surgery. Here, we report the case of a 39-year-old woman who experienced increased menorrhagia, back pain, and pressure sensations during the past six months. She had a well-defined, freely movable lump in her lower abdomen, measuring the size of a 22-cm uterus. The patient exhibited pallor, and her imaging scan showed the presence of an intramural posterior uterine solid mass indistinguishable from fibroid measuring 8.5 × 9 cm. Goserelin acetate (Zoladex 3.6 mg implant) was recommended for a duration of six months. The patient experienced a significant amelioration in menorrhagia and discomfort. However, no reduction in the size of the mass was observed. Myomectomy was made for the suspicion of a malignant transformation. The histology examination confirmed the diagnosis of a STUMP; a hysterectomy was undergone, and the procedure went smoothly. The patient was discharged home in good condition with instructions for long-term follow-up due to a risk of recurrence of about 7%. The lack of standardized and clear clinical and diagnostic criteria for STUMP adds challenges to their management.
PubMed: 38738100
DOI: 10.7759/cureus.58067 -
Cureus Apr 2024B-cell lymphoblastic lymphoma (B-LBL) is an abnormal proliferation of lymphocyte precursor cells located primarily outside of the bone marrow and peripheral blood,...
B-cell lymphoblastic lymphoma (B-LBL) is an abnormal proliferation of lymphocyte precursor cells located primarily outside of the bone marrow and peripheral blood, typically in the mediastinum or other lymph nodes. It is often a disease of childhood that presents with lymphadenopathy, fatigue, pallor, bone pain, and weight loss with laboratory findings of anemia and thrombocytopenia. Initial presentations prompted by head and neck manifestations are exceedingly rare. A five-year-old girl with no significant past medical history presented with right facial swelling and mild proptosis on ophthalmologic evaluation. She was referred to a tertiary care facility by her local otolaryngologist for further management after computed tomographic imaging revealed right maxillary sinus opacification and erosion of the anterior maxillary bone. Her symptoms were initially responsive to prednisone and amoxicillin-clavulanate, and only right unilateral nasal discharge persisted with a near-complete resolution of other sinonasal symptoms. Notably, laboratory values, including complete blood count, were within normal limits. Given concern for the etiology of the bony erosion, the patient presented for a second opinion, where imaging and biopsy resulted in flow cytometry findings consistent with B-ALL/LBL. After a bone marrow biopsy, the ultimate diagnosis was Murphy's stage III B-cell lymphoblastic lymphoma. Malignant neoplasms of the sinonasal region are rare in children, where primary sinonasal B-LBL is a unique occurrence. Clinical features of sinonasal B-LBL in the paranasal sinuses may masquerade as pathologies such as acute sinusitis, orbital cellulitis, and benign tumors or polyps that can lead to a confounding diagnosis. In this case presentation, an initial response to steroids and antibiotics should not provide false reassurance when other features and signs, such as maxillary bone erosion, may suggest the presence of malignancy.
PubMed: 38738089
DOI: 10.7759/cureus.58132 -
IgG4-related disease: Case report and 6-year follow-up of an elusive diagnosis mimicking malignancy.Clinical Case Reports May 2024IgG4-related disease is a rare and emerging pathology, characterized by the appearance of pseudotumors. Due to the ability to mimic other pathologies, it is essential to...
KEY CLINICAL MESSAGE
IgG4-related disease is a rare and emerging pathology, characterized by the appearance of pseudotumors. Due to the ability to mimic other pathologies, it is essential to consider it as a differential diagnosis in multisystemic processes. The diagnosis is challenging, requiring a multidisciplinary approach, to minimize the associated morbidity and mortality.
ABSTRACT
IgG4-related disease (IgG4-RD) is a rare, emerging, systemic and chronic pathology, characterized by the appearance of pseudotumors resulting from tissue infiltration by IgG4-positive plasma cells that promote eosinophilic inflammation of the tissue with subsequent fibrosis. We present the case of a male, 45-year-old patient, with marked weight loss and skin pallor detected by his family doctor during a child health consultation of his daughter. When questioned, the patient referred complaints of postprandial discomfort in the left hypochondrium with a feeling of fullness, weight loss, chronic fatigue and hyperhidrosis that had lasted for a month. On physical examination, he was pale, and had pain at palpation of the left hypochondrium. Laboratory data showed increased inflammation markers, abdominal ultrasound and CT demonstrated numerous enlarged lymph nodes in the upper quadrants, raising concern for a malignant lymphoproliferative process. Serological, imaging, clinical and laparoscopic excisional biopsy revealed features of IgG4-related disease and excluded malignant lymphoproliferative disease. The immediate response to treatment with oral prednisolone 30 mg/day also contributed for diagnosis confirmation. Due to refractory disease after gradual prednisolone reduction, second-line therapy with rituximab was initiated. Over the 6 years of follow-up, the patient presented multiple exacerbations characterized by the emergence of systemic symptoms, being maintained under close clinical and imaging follow-up by reumathology, infectious diseases, and family medicine specialists.
PubMed: 38736580
DOI: 10.1002/ccr3.8894 -
The American Journal of Case Reports May 2024BACKGROUND Thalassemia and hemoglobin (Hb) variants are the most common hereditary red blood cell disorders worldwide. Alpha-thalassemia and alpha-globin variants are...
BACKGROUND Thalassemia and hemoglobin (Hb) variants are the most common hereditary red blood cell disorders worldwide. Alpha-thalassemia and alpha-globin variants are caused by mutations of the alpha-globin genes (HBA2 and HBA1), resulting in impaired alpha-globin production and structurally abnormal globin, respectively. Clinical severity of alpha-thalassemia correlates with the number of affected alpha-globin genes, yielding a spectrum of clinical manifestations from mild to severe anemia. Routine diagnosis involves Hb analysis and PCR-based methods, yet identifying rare variants necessitates comprehensive clinical and hematologic laboratory data. The knowledge of phenotype and genotype correlation is useful for genetic counseling and treatment planning. CASE REPORT A 59-year-old Thai woman presented with chronic anemia. Her baseline Hb level ranged between 8.0 and 9.0 g/dL, with no history of transfusion. Physical examination showed mild pallor, without enlarged liver and spleen. Laboratory investigations showed microcytic, hypochromic anemia and abnormal Hb peak by Hb analysis (retention time 4.58 min by HPLC method). Common alpha-globin gene deletions, including the Southeast-Asian/Thai 3.7 kb and 4.2 kb deletions were tested using gap-PCR, with none of these deletions detected. Direct DNA sequencing revealed a compound heterozygosity of Hb Jax (HBA2: c.44G>C) and Hb Constant Spring (HBA2: c.427T>C). CONCLUSIONS Compound heterozygosity of Hb Jax and Hb Constant Spring results in microcytic anemia. Hb Jax can be identified by Hb analysis, and diagnosis can be confirmed by direct DNA sequencing method. Coinheritance of Hb Jax and alpha-globin variants should be considered in cases with microcytic anemia and a specific Hb peak seen in Hb chromatogram.
Topics: Humans; Female; Hemoglobins, Abnormal; Middle Aged; Anemia, Hypochromic; alpha-Thalassemia; alpha-Globins
PubMed: 38725231
DOI: 10.12659/AJCR.943560 -
Pediatric Neurology Apr 2024The pediatric migraine phenotype may exhibit differences to adults, leading to diagnostic challenges. We aimed to perform a cross-sectional systematic study to...
BACKGROUND
The pediatric migraine phenotype may exhibit differences to adults, leading to diagnostic challenges. We aimed to perform a cross-sectional systematic study to characterize the extended phenotype of pediatric migraine.
METHODS
New migraine patients presenting to the Children's Headache Clinic were included (n = 105). Data were collected via a detailed symptom questionnaire at the first clinical encounter and were analyzed using descriptive statistics, Cohen kappa (k), Spearman correlation (ρ), and Poisson and binomial logistic regression models within SPSS.
RESULTS
Patients were 65% female and aged five to 17 years (median 14, interquartile range [IQR] 11 to 15), with a mean disease duration of 4.7 years (S.D. 2.8). Monthly headache frequency was 1 to 30 days (median 30, IQR 12 to 30). Attack duration varied between 2 and 168 hours (median 12, IQR 5 to 72). The majority (81%) experienced bilateral headache. Premonitory symptoms (PS) were reported by 93% (range 0 to 7; mood change and tiredness most commonly), cranial autonomic symptoms (CAS) by 58% (range 0 to 6; pallor and lacrimation most commonly), and premonitory CAS by 23%. Vertigo (53%) and allodynia (16%) were present. The laterality of headache and CAS showed agreement (k = 0.5, P < 0.001). For every year of disease duration, 1.07 times more PS were reported (95% confidence interval [CI] 1.03 to 1.12, P < 0.001). The number of CAS (odds ratio 2.13, 95% CI 1.2 to 3.8, P = 0.01) significantly predicted allodynia.
CONCLUSIONS
Children display a more enriched PS phenotype with disease chronicity. CAS and allodynia may be markers of central sensitization with shared neurobiological mechanisms in the absence of peripheral nociceptor activation.
PubMed: 38718550
DOI: 10.1016/j.pediatrneurol.2024.03.026 -
Cureus Apr 2024Dysphagia is a common symptom encountered in clinical practice, typically associated with a wide range of etiologies, including structural abnormalities, inflammatory...
Dysphagia is a common symptom encountered in clinical practice, typically associated with a wide range of etiologies, including structural abnormalities, inflammatory conditions, neoplasms, and neurological disorders. However, the combination of subcutaneous emphysema, vocal cord palsy, enlarged arytenoids, and pooling of saliva in a dysphagic patient represents a rare and intriguing presentation. A 33-year-old female presented at a tertiary care hospital in Western India with hoarseness of voice, difficulty in swallowing, productive cough, and neck pain for two months with an abrupt increase in the severity of all symptoms in two days. A history of chewable tobacco use for six years was disclosed. Clinical evaluation revealed a thin build with platynychia and conjunctival pallor, dental staining, drooling of saliva, the presence of extensive subcutaneous emphysema on palpation of the neck, and absent laryngeal crepitus. Endoscopic evaluation was suggestive of right vocal cord palsy and enlarged, congested arytenoid cartilages, post-cricoid growth with pooling of saliva in bilateral pyriform fossae. A CT scan of the neck showed a 2x3 cm neoplastic growth in the hypopharynx, with subcutaneous emphysema and free air foci in the head and neck region, prompting an immediate tracheostomy and biopsy of the hypopharyngeal growth with Ryle's tube insertion. Squamous cell carcinoma was confirmed on the biopsy report. Due to its rarity, the possible underlying cause of idiopathic subcutaneous emphysema should be sought whenever encountered in clinical practice since these patients are potentially misdiagnosed. A high index of suspicion among clinicians, along with a consideration of the constellation of other symptoms and clinical features of a possible underlying hypopharyngeal cancer whenever encountering such patients is of key importance for prompting further investigations and treatment.
PubMed: 38711727
DOI: 10.7759/cureus.57727