Medical Reports最新文献

Key clinical message

Distal renal tubular acidosis, first described in 1946, holds significant clinical importance, particularly in paediatric populations, due to its long-term impact on bone density and growth, as well as effects on the kidneys [3,6]. Early recognition and appropriate management of RTA in paediatric patients is essential to mitigating long term complications and optimising patient outcomes [3].

We report a case of a 13-year-old female child who presented with unusual symptoms of distal RTA, namely bilateral lower limb weakness. Undiagnosed renal tubular acidosis predisposes patients to an array of complications and 25 % of patients may experience a metabolic emergency at some point [3]. The patient was treated with electrolyte-balancing agents and vitamin D. The patient responded to treatment and was discharged, followed by regular-follow ups in the outpatient department.

An insect born disease termed as leishmaniasis is a type of parasitic disease which is becoming a great threat for social as well as medical team of more than 99 countries and its cases are increasing in Pakistan. The present study was conducted in Pakistan and its purpose was to demonstrate the geographical distribution as well as clinical features and risk factors of cutaneous leishmaniasis. Total (n=26590) were identified with cutaneous leishmaniasis from the four provinces of Pakistan from which 43.88 %(n=11670) of cases reported from Khyber Pakhtunkhwa which is highest among all the provinces whereas 33.31 %(n=8858) of cases reported from Balochistan. Additionally, 9.91 % of cases reported from province Sindh meanwhile 7.06 %(n=1878) of cases reported from Azad and jamu Kashmir and 5.82 % (n=1548) percent cases were reported from punjab which is among the lowest. Khyber Pakhtunkhwa is in a moderate season, and it favors protozoan’s parasite to spread the disease. The infected patients’ skin scraps were collected for microscopic examination and blood samples were taken for PCR. Most of the infected patients are from rural areas where the chances of biting sand fly were greater in these areas. The purpose of this study was to report the infected areas as well as to spread awareness about the spread of this disease.

Mesenteric panniculitis (MP) is an inflammatory condition affecting the mesenteric adipose tissue, characterized by idiopathic inflammatory and fibrotic changes. We present a case of a 66-year-old woman initially diagnosed with MP, followed by the diagnosis of follicular lymphoma six months later. Despite several proposed hypotheses, the etiology of MP remains poorly understood, with potential associations including abdominopelvic surgery, infections, autoimmune conditions and various malignancies including lymphoma. Several studies have not consistently demonstrated an association with lymphoma. Further research is needed to delineate the exact mechanisms underlying MP and its potential associations with lymphoma, warranting careful evaluation and follow-up in clinical practice.

Double-J (DJ) stents are often used in urological procedures, mostly to treat symptoms of ureteral blockage. Long-term stent placement can result in major issues such as hydronephrosis and the production of stones. We describe a 49-year-old female patient with chief complaints of dysuria and right flank pain. The patient had a history of DJ stent insertion 3 years ago. From the kidney–ureter–bladder x-ray we found a DJ stent in the right paravertebral space, with its proximal tip at the level of the second lumbar vertebra, and a ureteral stone and the distal stent tip in the bladder and surrounded by stones. A ureterolithotomy and vesicolithotripsy were performed, as well as a DJ stent extraction. The patient was discharged home on the third postoperative day and was in good condition at the follow-up 10 days after surgery. In conclusion, a DJ stent is a foreign body that can be a place for stone formation, so the installation of DJ stents in patients needs to be considered as well as possible and need close monitoring.

Purpose of research

Calcifying epithelial odontogenic tumor (CEOT), a benign, infrequent, odontogenic epithelial neoplasm, is mostly intraosseous, with occasional peripheral presentations. Although rare, the malignant transformation potential of CEOT has been reported. Herein, we elucidate four CEOT cases, involving female subjects, with emphasis on relevant clinical-radiological-histopathological and immunohistochemical diagnostic features.

Principal results

The CEOT cases presented here showed diverse clinical, radiological and histopathological spectrum, with one of the cases showing pronounced features of malignancy.IHC staining showed marked p53 positivity whereas Ki67 expression was less in the presented malignant case of this series.

Conclusion

Differentiation between extremely benign, locally aggressive CEOTs and its malignant counterparts remain an enigma. IHC staining is instrumental in depicting malignant nature of CEOT.

Scientific elucidation regarding more instances of malignant or recurrent variants of CEOTs is needed, to clearly understand their biology, aggression and behavior, through advanced molecular assays.

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.