Medical Reports最新文献

Background

Fibromatosis colli presents a challenge due to its low incidence of 0.4 % in live births. Its etiology remains debated, often linked to fetal head positioning or birth-related trauma. Diagnosis relies on clinical and ultrasound findings, guiding treatment options ranging from observation to surgical intervention.

Case report

A 25-day-old female infant presented with left cervical swelling and torticollis. Ultrasound revealed fusiform thickening of the left sternocleidomastoid muscle, confirming fibromatosis colli. Treatment comprised motor physiotherapy and positional adjustments, resulting in regression and eventual resolution of the swelling by six months without recurrence.

Conclusion

Fibromatosis colli, a benign infancy-related neoplasm, is associated with factors like birth trauma. Diagnosis typically occurs within the first six months, with ultrasound as the preferred diagnostic tool. Conservative management, including physiotherapy, yields favorable outcomes, while surgical intervention may be warranted in refractory cases.

Syndrome of inappropriate antidiuretic hormone secretion (SIADH) is characterized by excessive antidiuretic hormone release, leading to fluid and electrolyte imbalance. We report a case of a 72-year-old female with SIADH induced by melatonin use. She presented with confusion and hyponatremia, attributed to melatonin's ADH-stimulating effect. Treatment with sodium correction and tolvaptan resulted in clinical improvement. Melatonin-induced SIADH should be considered in patients presenting with hyponatremia while on melatonin therapy.

Objective

Loss of function PIEZO 2 mutations have been linked to distal arthrogryposis with impaired proprioception and touch (DAIPT). The key features of this disease include hypotonia at birth, breathing difficulty, scoliosis, hand and feet deformities, sensory ataxia, and impaired proprioception and vibration. Causal association with central nervous system manifestations has not been established.

Methods

We present a case of young woman with PIEZO 2 mutations with DAIPT, who in addition to typical features also developed epilepsy.

Results

A 20-year-old young woman presented with symptoms of feeding difficulty, hypotonia, weakness, delayed motor milestones, short stature, feet and hand deformities, scoliosis, and imbalance. She developed seizures described as generalized tonic-clonic seizures at the age of 16 years. Her exam showed contractures at the elbows, severe hallus valgus, pes planus, thumb subluxation, distal more than proximal muscle weakness, impaired proprioception and vibration sensation. Her electromyography and nerve conduction study was normal. Whole Exome Sequencing was performed which revealed novel compound heterozygous mutations in PIEZO 2 (loss of function) and was diagnosed with DAIPT.

Discussion

It is possible that loss of function mutations of PIEZO 2 may have a role in the pathogenesis of CNS manifestations like epilepsy, as in our patient.

A 15-year-old critically injured male was transferred to the trauma management center after a road traffic accident. The patient had sustained a head injury with a lower limb crush injury and underwent massive blood loss before hospitalization. During acute trauma resuscitation, he was transfused massively both in the intra-operative and post-operative period with ABO-incompatible blood. The patient developed hemolysis and disseminated intravascular coagulation related signs which were not differentiated from the sequelae of poly-trauma and its complication earlier. The clinical status of the patient was not improving even after following the treatment protocols for trauma management. Later it was revealed that the clinical condition was attributed to incompatible blood transfusion due to wrong blood in the tube for the pre-transfusion group testing sample. In conclusion, the possibility of transfusion mismatch can be a differential in non-responding trauma patients who develops features of coagulopathy.

Idiopathic inflammatory myositis (IIM) encompasses a group of rare autoimmune disorders characterized by muscle inflammation and weakness. This case report details a rare association of IIM with neuropathy in a 55-year-old woman at presentation referred to as neuromyositis.

The patient had rapidly progressing proximal muscle weakness, difficulty in swallowing, and respiratory muscle weakness. Clinical examination, laboratory tests, imaging studies and histopathological examination confirmed the diagnosis of inflammatory myositis and axonal neuropathy. The coexistence of myositis and neuropathy suggests a complex autoimmune process affecting both muscles and peripheral nerves. Histological findings revealed myofiber necrosis, myophagocytosis, and neuropathic changes, indicating a potential common underlying mechanism. Our patient improved with biologic therapy. This case report emphasizes the complexity of neuromyositis and the importance of a multidisciplinary approach for accurate diagnosis and management.

A 43-year-old female who was diagnosed with coronavirus disease 2019 (COVID-19) seventeen days before was transferred to our hospital because of fever and cough.Computed tomography (CT) showed consolidations in both lung fields, and we diagnosed COVID-19 pneumonia. After the addition of remdesivir and baricitinib, her symptoms improved. However, on day 19 a fever was observed, and CT also showed new consolidations. Genomic analysis revealed a different type from the first infection.Furthermore, repeated measurement of antibodies against SARS-CoV-2 revealed no antibody production. She was diagnosed with immunodeficiency and recovered completely with the use of immunoglobulins and antibody preparations for COVID-19. We report that repeated measurement of antibodies against SARS-CoV-2 revealed immunodeficiency disease.

Introduction

Meckel's diverticulum (MD) is a complex medical condition that can result in uncommon and serious abdominal surgical emergencies. Its unique presentations make it a distinctive phenomenon in surgical practice.

Case presentation

A 46-year-old male patient with a history of appendectomy presented with fever and severe abdominal pain near the umbilicus. An umbilical hernia was felt as tense, tender, and irreducible. Computerized Tomography (CT) scans of the abdomen showed a loculated collection related to the umbilicus, and oral contrast was seen to extravasate into the collection. Surgical exploration revealed a perforated Meckel's diverticulum in an umbilical Littre's hernia.

Conclusion

the presence of a perforated MD in a Litter’s hernia of a previously diagnosed uncomplicated incidental MD is a rare presentation. This highlights the significance of removing uncomplicated incidental MD to avoid potential complications.

Endodontic treatment comprises major chunk of dental treatment required for which patient visits dental operatory. Endodontic treatment is a highly complex procedure requiring lot of efforts for its success. However, human errors do occur while performing endodontic procedure. These errors are called iatrogenic errors which occur due to ill effect by any medical activity due to clinician or any chair side assistant including diagnosis, intervention or any negligence. Out of all the iatrogenic errors, sodium hypochlorite accident is one of the most life-threatening accidents which patient might face while performing endodontic procedure. If these conditions occur, clinician should be well aware about its etiology and its management. Proper proficiency and good medical support are often required in treating these cases.

Placenta increta is an uncommon yet clinically significant complication that can result in maternal morbidity and mortality. It is primarily seen during the third trimester. There have been very few reports of it being discovered in the first trimester of pregnancy. However, the presentation was even more unique in our patient who was initially diagnosed with molar pregnancy via pelvic sonogram.

Case presentation

A 30-year-old G4P3, with three previous C-sections, presented with per vaginal bleeding at 13 weeks and 4 days of gestation. Pelvic sonogram suggested molar pregnancy, which led to a suction and curettage. During the planned procedure, severe uncontrolled hemorrhage ultimately resulted in a total abdominal hysterectomy. Subsequent histopathology revealed placenta increta with less than 50 % invasion of villi and trophoblasts into the myometrium, thus giving us our final diagnosis.

Conclusion

This case showcases how placenta increta can be found as early as first trimester- rare though it may be. This unique condition, which could result in major morbidity, should be among the differential diagnoses when unexpectedly profuse hemorrhage is encountered in a woman with previous C-section scar.

Background

The classification of amyloidosis is determined by the type of defected protein. Amyloidosis type AA is induced by chronic inflammatory processes, such as long-standing infections or inflammations. However, it is seldom caused by inflammatory bowel disease (IBD). Gastrointestinal (GI) involvement in AA amyloidosis typically lacks specific symptoms, with most cases remaining subclinical. Furthermore, colonoscopy findings such as mucosal fragility and ulcerations can be easily mistaken for ulcerative colitis (UC). We present a case of AA amyloidosis in which GI symptoms closely resembled those of UC.

Case presentation

A 33-year-old male was admitted with symptoms of diarrhea, headache, blurry vision, and weight loss. He had been diagnosed with amyloidosis one month prior. The renal biopsy revealed secondary AA amyloidosis. However, two weeks after admission, the patient developed severe bloody diarrhea, and a colonoscopy revealed an ulcerated and fragile mucosa consistent with ulcerative colitis (UC). The patient received treatment for a UC flare-up as well as for infectious colitis, which led to a temporary improvement. Nevertheless, histopathological examination ruled out IBD and confirmed the presence of AA amyloidosis. Furthermore, a follow-up biopsy after two months revealed the absence of UC-related features.

Conclusions

GI amyloidosis can manifest as severe and potentially life-threatening colitis, clinically mimicking features of IBD, both during physical examination and endoscopy. However, histopathological analysis plays a crucial role in the diagnosis. Moreover, an early diagnosis can lead to improved outcomes, enhancing the quality of life for amyloidosis patients by effectively managing the associated diarrhea.