Medical Reports最新文献

Epilepsy of infancy with migrating focal seizures (EIMFS) is a genetically heterogeneous disorder presenting with early infantile epileptic encephalopathy. Here we report a PACS2 pathogenic variant typically associated with a developmental and epileptic encephalopathy in an infant presenting with clinical and electrographic findings suggestive of EIMFS who, however, responded well to low dose Carbamazepine and achieved normal developmental milestones. This case highlights an unexpected phenotypic presentation of a recurrent PACS2 variant and suggests an effective therapeutic approach to this clinical presentation.

Background

Crataegus mexicana, or tejocote, has been traditionally used to treat various ailments across many Latin American countries. Several hawthorn species have shown a positive inotropic effect similar to digitalis. Recently, tejocote root has been touted as a popular slimming agent. The FDA has issued warnings regarding adulterated over-the-counter tejocote root preparations that have been found to be substituted with yellow oleander. This case describes a reported tejocote root intoxication resulting in ventricular tachycardia, gastrointestinal distress, and a falsely positive digoxin assay.

Case report

A 57-year-old male-to-female transgender patient presented to the ED complaining of persistent nausea and vomiting. The patient reported consuming two pills of tejocote daily for the past month as a weight loss supplement and denied any other medications. Initial vitals showed a blood pressure of 96/48 mmHg, a pulse of 65 beats per minute, and a normal temperature, respiratory rate, and oxygen saturation. Chemistry showed an elevated potassium level of 5.7 mmol/L and a white blood cell count (WBC) of 13.85 ×10^9/L. An electrocardiogram revealed a pattern often seen with chronic cardiac glycoside use (i.e., scooping of the ST segment, the so-call “Salvador Dali sign”), so a digoxin level was obtained and shown to be elevated at 0.17 ng/mL. A service was consulted, and the patient was admitted for observation. During her hospitalization, she developed a transient episode of non-sustained ventricular tachycardia accompanied by hypoxemia while being treated with albuterol. Over the following days, electrolytes normalized, and the patient was ultimately discharged.

Conclusion

Consumption of over-the-counter tejocote root preparations may cause toxicities similar to cardiac glycosides. Components of purported tejocote root preparations may cross-react with commercial digoxin assays, leading to falsely elevated levels. Recently, FDA has issued warnings regarding the adulteration of these preparations with yellow oleander. Clinicians need to be aware of over-the-counter tejocote root preparations and their potential for toxicity.

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.