scholarly journals Neurological findings in a patient with mosaic chromosome 8 trisomy

2021 ◽  
Author(s):  
Bruno Custódio Silva ◽  
Thais Vanessa Salvador ◽  
Jéssica Karine Hartmann ◽  
Laira Francielle Ferreira Zottis ◽  
Mateus Arenhardt de Souza ◽  
...  

Context: Mosaic chromosome 8 trisomy is a rare genetic disease that can develop with neurological abnormalities. Case report: A male patient had a deficit in weight gain since his first month of life, in addition to delayed speech and neuropsychomotor. At 2 years old, the family noticed that he did not see well, and then began an ophthalmological investigation that resulted in the diagnosis of bilateral congenital cataract. Moreover, it was observed that the child had microcephaly, epicanthus, and strabismus converging to the right. Abdominal ultrasound showed hepatosplenomegaly and asymmetric kidneys. Computed tomography scan of the skull was normal. Chest radiography showed an increase in cardiac volume. Bone scintigraphy revealed heterogeneous uptake of the tracer radius in the projection of the femoral diaphyses, in addition to bilateral distal femoral hypertension, with central hypoactivity being more evident on the left. Blood karyotype exhibited a mosaic chromosome 8 trisomy (mos 47, XY, + 8 [10] / 46, XY [12]). His first medullogram had been normal; however, the new test showed myelodysplasia. Conclusions: Mosaic chromosome 8 trisomy is a chromosomal abnormality characterized by quite varied clinical manifestations. Neurological changes may be present, among which are seizures. There is also a description of agenesis of the corpus callosum. In our case, speech and neuropsychomotor delay was noteworthy.

2021 ◽  
pp. 000313482110474
Author(s):  
Gwyneth A. Sullivan ◽  
Nicholas J. Skertich ◽  
Kody B. Jones ◽  
Michael Williams ◽  
Brian C. Gulack ◽  
...  

Intussusception is the most common cause of bowel obstruction in infants four to ten months old and is commonly idiopathic or attributed to lymphoid hyperplasia. Our patient was a 7-month-old male who presented with two weeks of intermittent abdominal pain associated with crying, fist clenching and grimacing. Ultrasound demonstrated an ileocolic intussusception in the right abdomen. Symptoms resolved after contrast enemas, and he was discharged home. He re-presented similarly the next day and was found to be COVID-19 positive. Computed tomography scan demonstrated a left upper quadrant ileal-ileal intussusception. His symptoms spontaneously resolved, and he was discharged home. This suggests that COVID-19 may be a cause of intussusception in infants, and infants presenting with intussusception should be screened for this virus. Additionally, recurrence may happen days later at different intestinal locations. Caregiver education upon discharge is key to monitor for recurrence and need to return.


2021 ◽  
Vol 3 (3) ◽  
pp. 131-139
Author(s):  
Donaliazarti Donaliazarti

Leptospirosis is a disease caused by spirochaeta microorganism of the genus Leptospira, while the amoebic liver abscess is an extraintestinal complication by Entamoeba Histolytica. Both diseases occurred in a 45-year-old man with poor personal hygiene and environment sanitation. Amoebic liver abscess was found to be a coincidence that was thought to have existed before the patient developed leptospirosis so that the two diseases caused overlapping clinical manifestations in the patient, but the acute symptoms experienced by the patient at the time of admission were more likely to be caused by his leptospirosis. Patient complained of high fever, yellowing of the skin and eyes, urinating like concentrated tea, stiffness in both legs, nausea, vomiting and heartburn. On physical examination found febrile, tachycardia, icteric on skin and sclera, ciliary injection, and hepatomegaly. Laboratory tests showed mild anemia with normocytic normochromic features, leukocytosis with neutrophilia shift to the right, thrombocytosis, increased ESR, prolonged APTT, hyperbilirubinemia, elevated SGOT SGPT, ALP and GGT enzymes, hypoalbuminemia, hyperglobulinemia, and bilirubinuria. Microscopic examination with negative staining of urine samples found Leptospira. Abdominal ultrasound examination showed a solitary space occupying lesion (SOL) in the right lobe of the liver and on serological examination showed positive antiamoeba. Based on the above, this patient was diagnosed as having coincident leptospirosis with amoebic liver abscess.


Author(s):  
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Introduction: A prospective study was carried out, with the aim of establishing the clinical manifestations of cholelithiasis in the population of Quito, Ecuador. Methods: During the period from January 2012 to October 2017, 534 patients were referred from different outpatient clinics of the Ecuadorian Institute of Social Security to the Batan Medical Center with the diagnosis of cholelithiasis after a clinical assessment and abdominal ultrasound, to be treated surgically. Results: Sixty-nine percent of patients were female with a male-female ratio of 1:2.21. Mean age was 44.9 years. Pain was the most common symptom in our study: 95.7%. Among these patients, pain was located in the epigastrium in 49.8%, in the right hypochondrium in 45.1% and only 0.8% had low back pain. Pain ranged from moderate and even severe. The remaining 4.3% of patients had dyspepsia or were asymptomatic. Conclusions: This finding highlights the fact that epigastric pain must be always considered as a clinical manifestation on cholelithiasis.


2020 ◽  
pp. 039156031989615
Author(s):  
Simone Sforza ◽  
Giorgio Persano ◽  
Chiara Cini ◽  
Idanna Sforzi ◽  
Antonio Andrea Grosso ◽  
...  

Introduction: Renal trauma is a relevant cause of morbidity in children older than 1 year. Most patients are currently managed conservatively, even in case of high-grade traumas; nevertheless, harmful complications may occur even in hemodynamically stable patients. We present a case of grade IV blunt renal trauma complicated by post-traumatic pseudoaneurysm. Case description: A 10-year-old girl was referred to our institution for grade IV trauma of the right kidney. During observation she had persistent hematuria that caused anemia. A second contrast-enhanced computed tomography scan revealed a posttraumatic pseudoaneurysm that was successfully treated by angiographic embolization. Conclusions: Although extremely rare after blunt renal trauma, post-traumatic renal pseudoaneurysm may cause severe blood loss and anemia, and angioembolization is therefore indicated. This condition should be suspected and move physicians to investigate further.


1994 ◽  
Vol 28 (1) ◽  
pp. 37-39 ◽  
Author(s):  
Fred Hashimoto ◽  
Robin L. Davis ◽  
Douglas Egli

OBJECTIVE: To report a case of hepatitis induced by two histamine (H2)-receptor blockers, famotidine and cimetidine. CASE SUMMARY: A 51-year-old obese woman with a duodenal ulcer developed symptomatic, famotidine-induced hepatitis. Other causes for hepatitis were ruled out. Famotidine was discontinued and the patient took omeprazole for a month without incident. Cimetidine therapy was then initiated and shortly thereafter, the patient developed another episode of symptomatic hepatitis that resolved upon drug discontinuation. Two abdominal ultrasound examinations six months apart and an abdominal computed tomography scan obtained later showed what appeared to be a stable, fatty liver. DISCUSSION: This appears to be the first reported case of clinical hepatitis related to famotidine and the first reported case where clinical hepatitis followed the administration of two different H2-receptor blockers. The fatty liver probably was secondary to obesity and incidental to the hepatitis episodes. CONCLUSIONS: Famotidine can cause clinical hepatitis, and druginduced hepatitis can occur after the administration of two different H2-receptor blockers.


Author(s):  
Erika Villedieu ◽  
Samuel Beck ◽  
Laurent Findji

ABSTRACT A 4 mo old female Finnish lapphund presented for further investigation of a swelling of the right rostral mandible. A computed tomography scan showed the swelling to be an expansile and osteolytic mandibular lesion. Histopathology revealed a poorly differentiated, moderately well-demarcated, unencapsulated, highly infiltrative round cell neoplasm, and immunohistochemistry was supportive of a plasmacytoma. Performance of a rostral partial mandibulectomy was initially discussed with the owners, but the lesion improved spontaneously both clinically and on repeated computed tomography scanning before surgery could be performed. It subsequently almost completely resolved 6 mo after diagnosis. Hypotheses for spontaneous regression of the lesion are discussed and the human literature is briefly reviewed.


1995 ◽  
Vol 109 (3) ◽  
pp. 252-254 ◽  
Author(s):  
A. A. W. M. Meulenbroeks ◽  
G. D. Vos ◽  
J. M. H. Van der Beek ◽  
P. J. E. H. M. Kirslaar

AbstractA three-year old bot wiht a swelling on the right side of his neck was suspected of having parapharyngeal abscess after clinical examination and CT scan(computed tomography scan) of this region. Later it became clear, that the swelling was caused by an aneurysm of the internal carotid artery. This case report describes the pitfalls and difficulties encountered in the diagnostic course and treatment planning.


Author(s):  
Blanca Piedra Herrera ◽  
Yanet Yanet Acosta Piedra

Chronic subdural hematoma (CSH) is a common neurosurgical pathology that is recognized as a consequence of minor head injuries that are usually diagnosed in senile patients, although it can occur in young patients without a history of trauma. The objective of this work is the presentation of a patient with a bilateral CSH, with unusual characteristics. Clinical case: a 46-year-old female patient with no history of head trauma or other concomitant pathology is presented, who consulted for a 15-day-old headache. Physical examination confirmed mydriasis, Hutchinson’s pupil, bilateral papilledema and exophoria of the right eye, third cranial nerve palsy, and trunk ataxia. She was cataloged with Glasgow 13. Early anti-cerebral edema treatment was performed and the manifestations largely disappeared. A computed tomography scan diagnosed a bilateral fronto temporal subdural hematoma with displacement of the midline structures to the left. She underwent emergency surgery and was discharged completely recovered three days later. Conclusion: HSC can present with different clinical forms, simulating expansive tumor processes, cerebrovascular attacks, dementias or neurological entities of another nature. The case management by clinicians and neurosurgeons was quick and effective, which explains that the patient had an early and complete recovery. In these cases, medical action is decisive in the success of the treatment.


Author(s):  
Gurbax Singh ◽  
Jasmine Kaur ◽  
Jai Lal Davessar ◽  
Latika Kansal ◽  
Ajay Singh

<p>Cemento-ossifying fibroma (COF) is a benign fibro-osseous lesion commonly seen in the head and neck regions. It is considered as a benign, locally aggressive neoplasm that requires surgical excision. COF has traditionally been considered to be slow growing. We report a case of 11 year-old girl who presented to the ENT Department of our hospital with 7 months history of nasal obstruction, proptosis and headache. Computed Tomography scan images showed a mass in the right nasal cavity. This case is notable because involvement of the sphenoid sinus is rare. </p>


2019 ◽  
Vol 147 (9-10) ◽  
pp. 619-622
Author(s):  
Dragan Radovanovic ◽  
Jelena Jankovic ◽  
Marko Popovic ◽  
Mihailo Stjepanovic

Introduction. Unilateral absence of pulmonary artery is a rare vascular malformation. Because of this anomaly, the lungs are supplied by the system of collateral arteries. Case outline. We present a case of the right pulmonary artery agenesis in a female patient. She was admitted to the hospital because of hemoptysis. A computed tomography scan revealed a congenital malformation ? the right lung was smaller in size, the right principal pulmonary artery had not been developed along with aberrant tortuous blood vessels. Conclusion. Symptomatic therapy was applied in the case of our patient. There was no need for any surgical treatment. However, in case of massive hemoptysis embolisation or lobectomy/ pneumonectomy will probably be applied.


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