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Cureus Mar 2024Cerebral infarction due to post-traumatic cerebral vasospasm is rare. Although some modalities are recommended to detect post-traumatic cerebral vasospasm, its diagnosis...
Cerebral infarction due to post-traumatic cerebral vasospasm is rare. Although some modalities are recommended to detect post-traumatic cerebral vasospasm, its diagnosis remains controversial and challenging. Therefore, in this report, we will use a case report to highlight challenges and to delineate the characteristics of post-traumatic cerebral vasospasm in pediatric patients, including the diagnostic and treatment options. A 12-year-old female was admitted to our hospital following a motor vehicle collision. Her consciousness was severely impaired. Initial computed tomography (CT) revealed an acute subdural hematoma along the tentorium, and a focal subarachnoid hemorrhage was observed in the Sylvian fissure. The patient underwent the insertion of an intracranial pressure sensor and received therapy for increased intracranial pressure (ICP) control under sedation. On the second day, CT angiography (CTA) revealed no signs of arterial abnormality. A patient who is comatose or under sedation has masked neurological symptoms. Thus, new neurological events could only be detected via an intracranial pressure sensor. Her ICP increased on the seventh day, and a CT scan showed a new cerebral infarction in the right middle cerebral artery (MCA) region. We performed decompressive craniectomy to reduce ICP. Postoperative CTA confirmed severe vasospasm in the right MCA. The severe cerebral vasospasm induced the cerebral infarction. Our review suggests that physicians in trauma departments should frequently perform vascular evaluations by CTA, magnetic resonance angiography (MRA), transcranial Doppler ultrasound, or digital subtraction angiography (DSA), especially within two weeks from onset, to detect post-traumatic cerebral vasospasm.
PubMed: 38495962
DOI: 10.7759/cureus.56275 -
International Medical Case Reports... 2024Coloboma means curtailed in Greek language. It is mainly used when normal tissue of the eye or another organ is not present since birth. Coloboma is a congenital...
BACKGROUND
Coloboma means curtailed in Greek language. It is mainly used when normal tissue of the eye or another organ is not present since birth. Coloboma is a congenital abnormality mainly caused by incomplete closure of the embryonic fissure of the choroid part of eye.
PURPOSE
The aim of this case report is to share the clinical findings in a patient with bilateral iris coloboma, low vision, and headache.
PATIENTS AND METHODS
Case report.
RESULTS
An eleven-year-old boy with low vision and headache visited the University Eye Hospital of Kabul University of Medical Science (UEHKUMS) for consultation. Ophthalmic examination revealed a bilateral iris coloboma without concomitant chorioretinal defect, refractive error, and high intraocular pressure in both eyes. The refractive error of the patient was corrected by advising proper glasses, and the high intraocular pressure was controlled by anti-glaucoma drops. After several follow-up visits, the patient no longer complained of headache and low vision.
CONCLUSION
Visiting patients with iris coloboma should be considered for intraocular pressure (IOP) check, and screening of other family members is mandatory.
PubMed: 38495805
DOI: 10.2147/IMCRJ.S453954 -
Narra J Dec 2023Harlequin ichthyosis is a severe and fatal presentation of ichthyosis with an autosomal recessive inheritance. Infants with Harlequin ichthyosis have a high mortality...
Harlequin ichthyosis is a severe and fatal presentation of ichthyosis with an autosomal recessive inheritance. Infants with Harlequin ichthyosis have a high mortality rate, and a dismal prognosis; therefore the majority of neonates die shortly after birth from infection, heat loss, dehydration, electrolytic imbalances, or respiratory distress. The aim of this case report was to present a fatal case of Harlequin ichthyosis with no family history of any inherited skin disorder. A 3-day-old baby was presented to the emergency room with congenital abnormalities at birth, fissured hyperkeratotic skin, and thick yellow plates of scales. The parents had no history of consanguineous marriage, no relevant past medical history, and no family history of the same condition. The patient was unwell, pulse 162 times/minute, respiratory rate 48 times/minute, and axillary temperature 36.9oC. APGAR score was 8 in the 1st minute and 9 in the 5th minute. Based on the typical clinical appearance, the patient was diagnosed with Harlequin ichthyosis. Due to a lack of facility, a mutation analysis was not carried out. The patient was then transferred to the neonatal intensive care unit (NICU) and treated in a humidified incubator and medicated with intravenous antibiotics (ampicillin sulbactam 125 mg/12 hour and gentamicin 13 mg/24 hour), topically fusidic acid and mild emollients. A central venous catheter was used for intravenous access. The poor prognosis resulted in the patient dying at the age of 5-day-old. This case highlights that prenatal diagnosis is critical for early detection and disease prevention. Mutation screening for the gene is suggested for consanguinity marriages and with a history of ichthyosis.
PubMed: 38455615
DOI: 10.52225/narra.v3i3.302 -
Cureus Feb 2024We present an interesting case of mediastinal small cell carcinoma (MSCC), an exceedingly rare entity, comorbid with idiopathic pulmonary fibrosis (IPF). A 66-year-old...
We present an interesting case of mediastinal small cell carcinoma (MSCC), an exceedingly rare entity, comorbid with idiopathic pulmonary fibrosis (IPF). A 66-year-old female was first seen in the pulmonology office for abnormal chest computed tomography (CT) findings of right apical bronchiectasis and subpleural fibrotic changes with focal pleural thickening along the fissures, along with a right lower lobe nodule. Pulmonary function testing (PFT) showed an obstructive pattern with modest bronchodilator response, although subsequent PFT showed a worsening restrictive pattern with a worsening DLCO. On a follow-up CT one year later, a soft tissue density with peripheral calcification was found in the anterior mediastinum, later found to be hypermetabolic on a PET scan. Radiographically, fibrosis worsened with the appearance of worsening diffuse bilateral coarse reticular interstitial changes with lower lobe predominance, honeycombing, and areas of ground-glass opacity. A biopsy of the mediastinal lesion showed a high-grade neuroendocrine tumor. Cam5.2, insulinoma-associated protein-1, synaptophysin, and thyroid transcription factor-1 immunostains were positive. She underwent four cycles of chemotherapy with cisplatin and etoposide with a total of 60 Gy of radiation. Mediastinal mass started to decrease in size. Her respiratory status, imaging, and PFTs continued to show evidence of IPF progression. Prednisone resulted in modest clinical and radiographic response. Steroid-sparing therapy with mycophenolate mofetil, although effective, had to be discontinued due to GI bleeding. Anti-fibrotic therapy was deferred due to evidence showing a lack of clinical improvement. We discuss the existing evidence available on IPF management and proceed to highlight the deficiencies in existing data available on the management of IPF and MSCC in these patients. Most of the cases of MSCC reported in the past have managed MSCC using guidance from treatment practices for small cell lung cancer. No reported cases discuss or describe the management of IPF and MSCC in the very rare cohort of patients our case represents.
PubMed: 38449967
DOI: 10.7759/cureus.53578 -
Anatomy & Cell Biology Mar 2024Transverse basilar cleft (TBC) is an extremely rare variation of the clivus or the basilar part of the occipital bone. In this report, a unilateral transverse basilar...
Transverse basilar cleft (TBC) is an extremely rare variation of the clivus or the basilar part of the occipital bone. In this report, a unilateral transverse basilar fissure was found at the clivus in a head computed tomography of an 18-year-old female patient diagnosed with hemifacial microsomia (HFM). Image analysis of this patient showed shortening of the ramus of the right mandible along with medial displacement of the right temporomandibular joint and hypoplastic right maxilla. In addition, observation of the clivus showed a cleft between the basioticum and basioccipital bones at the level of the pharyngeal tubercle on the right side. This cleft was identified as TBC. Clival variations, TBC included, attributed to HFM have never been reported. This report draws attention to the complex relationship between abnormal development of clivus and HFM syndrome, and sheds light on a possible genetic and molecular association between these two conditions.
PubMed: 38449077
DOI: 10.5115/acb.23.289 -
BMC Neurology Mar 2024RARS2-related mitochondrial disorder is an autosomal recessive mitochondrial encephalopathy caused by biallelic pathogenic variants in the gene encoding the...
BACKGROUND
RARS2-related mitochondrial disorder is an autosomal recessive mitochondrial encephalopathy caused by biallelic pathogenic variants in the gene encoding the mitochondrial arginyl-transfer RNA synthetase 2 (RARS2, MIM *611524, NM_020320.5). RARS2 catalyzes the transfer of L-arginine to its cognate tRNA during the translation of mitochondrially-encoded proteins. The classical presentation of RARS2-related mitochondrial disorder includes pontocerebellar hypoplasia (PCH), progressive microcephaly, profound developmental delay, feeding difficulties, and hypotonia. Most patients also develop severe epilepsy by three months of age, which consists of focal or generalized seizures that frequently become pharmacoresistant and lead to developmental and epileptic encephalopathy (DEE).
CASE PRESENTATION
Here, we describe a six-year-old boy with developmental delay, hypotonia, and failure to thrive who developed an early-onset DEE consistent with Lennox-Gastaut Syndrome (LGS), which has not previously been observed in this disorder. He had dysmorphic features including bilateral macrotia, overriding second toes, a depressed nasal bridge, retrognathia, and downslanting palpebral fissures, and he did not demonstrate progressive microcephaly. Whole genome sequencing identified two variants in RARS2, c.36 + 1G > T, a previously unpublished variant that is predicted to affect splicing and is, therefore, likely pathogenic and c.419 T > G (p.Phe140Cys), a known pathogenic variant. He exhibited significant, progressive generalized brain atrophy and ex vacuo dilation of the supratentorial ventricular system on brain MRI and did not demonstrate PCH. Treatment with a ketogenic diet (KD) reduced seizure frequency and enabled him to make developmental progress. Plasma untargeted metabolomics analysis showed increased levels of lysophospholipid and sphingomyelin-related metabolites.
CONCLUSIONS
Our work expands the clinical spectrum of RARS2-related mitochondrial disorder, demonstrating that patients can present with dysmorphic features and an absence of progressive microcephaly, which can help guide the diagnosis of this condition. Our case highlights the importance of appropriate seizure phenotyping in this condition and indicates that patients can develop LGS, for which a KD may be a viable therapeutic option. Our work further suggests that analytes of phospholipid metabolism may serve as biomarkers of mitochondrial dysfunction.
Topics: Humans; Male; Child; Microcephaly; Muscle Hypotonia; Phenotype; Mitochondrial Diseases; Seizures; Arginine-tRNA Ligase
PubMed: 38438854
DOI: 10.1186/s12883-024-03571-w -
Cureus Jan 2024Dupuytren's disease (DD) is a fibroproliferative disorder that manifests as an abnormal growth of myofibroblasts, causing nodule formation and contractures and affecting... (Review)
Review
Comparing Complications and Patient Satisfaction Following Injectable Collagenase Versus Limited Fasciectomy for Dupuytren's Disease: A Systematic Review and Meta-Analysis.
Dupuytren's disease (DD) is a fibroproliferative disorder that manifests as an abnormal growth of myofibroblasts, causing nodule formation and contractures and affecting digit function. If left untreated, these contractures can lead to a loss of mobility and potentially impact hand function. This systematic review critically compares and evaluates the existing literature on the complications and patient satisfaction following injectable collagenase (CCH) versus limited fasciectomy (LF) for DD. We performed a comprehensive search of the PubMed, Medical Literature Analysis and Retrieval System Online (MEDLINE), The Cochrane Library, and Excerpta Medica database (EMBASE) databases from 2006 to August 2023. This research targeted all clinical studies involving adults who underwent injectable collagenase and/or limited fasciectomy in the management of DD. Out of the 437 identified studies, only 53 were considered eligible for our analysis, and merely 14 met our inclusion criteria. These selected studies encompassed a total of 967 patients with 1,344 treated joints, with an average follow-up duration of 19.22 (ranging from one to 84.06) months. Within this cohort, 498 joints from 385 patients underwent LF, while 846 joints from 491 patients received CCH injections. Notably, among the 491 patients treated with CCH, 1,060 complications were reported, averaging 2.15 complications per patient, with the most common being contusion/bruising/hematoma/ecchymosis (22.54%), and edema/swelling (18.96%). In contrast, among the 385 patients treated with LF, only 97 complications were reported, translating to 0.25 complications per patient, with the most frequent being paraesthesia or numbness (23.7%), scar sequelae like skin laceration, tear, fissure, or hypertrophic scar (23.7%), and neuropraxia or nerve injury (22.6%). Our meta-analysis indicates that paraesthesia or numbness is more frequently observed in LF than CCH injections, although without statistical significance, with a risk ratio (RR) of 0.39 (95% confidence interval (CI) 0.13-1.18, p-value 0.1). However, scar sequelae (hypertrophic scar, skin laceration, tear, or fissure) show a contrasting pattern, being more commonly associated with CCH injections than LF, with an RR of 1.98 (95% CI 0.26-14.85, p-value 0.51), which, upon eliminating the source of heterogeneity, becomes statistically significant, with an RR of 4.98 (95% CI 1.40-17.72, p-value 0.01). Our data revealed a higher frequency of complications with CCH compared to LF, although more severe adverse effects were observed in the LF group, such as neuropraxia or nerve injury. Scar sequelae were more common with CCH injections. Despite both treatments showing increased patient satisfaction at the final follow-up, CCH injection resulted in earlier improvements in satisfaction.
PubMed: 38420076
DOI: 10.7759/cureus.53147