Case Of Syndrome Research Articles

Association between underweight status or low body mass index and the risk of developing superior mesenteric artery syndrome following scoliosis corrective surgery in pediatric patients: a review of the literature

Superior mesenteric artery (SMA) syndrome is the compression of the third portion of the duodenum between the abdominal aorta and the superior mesenteric artery. Although multifactorial, the most frequent cause of SMA syndrome is significant weight loss and cachexia often induced by catabolic stress. SMA syndrome resulting from scoliosis surgery is caused by a reduction of the aortomesenteric angle and distance. Risk factors include rapid weight loss, malnutrition, and a rapid reduction in the mesenteric fat pad and are the most common causes of a decrease in the aortomesenteric angle and distance. Surgically lengthening the vertebral column can also lead to a reduction of the aortomesenteric distance, therefore, has been identified as a risk factor unique to spinal surgery. Despite a reported decline in SMA syndrome cases due to improved surgical techniques, duodenal compression is still a risk and remains a life-threatening complication of scoliosis surgery. This article is a cumulative review of the evidence of being underweight or having a low body mass index as risk factors for developing SMA syndrome following surgical scoliosis instrumentation and correction.

A rare case of trigeminal trophic syndrome with periorbital cellulitis and full-thickness upper eyelid defect in an undiagnosed patient with human immunodeficiency virus: a case report

BackgroundTrigeminal trophic syndrome is a rare cranial and facial condition caused by damage to the central or peripheral branches of the trigeminal nerve. This syndrome consists of a triad of anesthesia, paresthesia, and crescent-shaped facial ulcer involving the ala nasi and sometimes extending to the upper lip. Although previous screening for human immunodeficiency virus in some patients with trigeminal trophic syndrome was negative, we present a unique case of trigeminal trophic syndrome who tested positive for human immunodeficiency virus with eye complications.Case presentationWe present a rare case of trigeminal trophic syndrome in a 44-year-old Black African woman who tested positive for human immunodeficiency virus. She presented with a 6-week history of progressive, persistent, and painless left sided facial and scalp ulcerations that started as small skin erosion. Diagnosis of trigeminal trophic syndrome was made on clinical grounds based on the triad of anesthesia, paresthesia, and unilateral crescent-shaped ulcer in the trigeminal dermatome and her past medical history. The ulcer healed completely after counseling and pharmacological therapy, but she later developed left periorbital cellulitis and left upper eyelid full-thickness defect.ConclusionThis is by far the first documented case of trigeminal trophic syndrome with a positive human immunodeficiency virus test. Testing for human immunodeficiency virus in patients with trigeminal trophic syndrome is necessary as this can help improve clinical management and treatment outcomes. Seeking the services of specialists remotely in resource constraint settings is beneficial for managing complications associated with trigeminal trophic syndrome.

Management of potassium-wasting syndrome in the antepartum, intrapartum and postpartum period.

Potassium-wasting syndromes, including Gitelman or Bartter syndrome, require close medical and biochemical review during pregnancy to reduce potentially severe complications, morbidity and mortality. We report a case of severe potassium-wasting syndrome managed successfully in pregnancy with extremely high oral potassium intake.

Median Arcuate Ligament Syndrome Involving a Celio-Mesenteric Trunk-a Lesson Learnt

Celio-mesenteric trunk (CMT) is a rare vascular variation of the ventral branches of the abdominal aorta that supply blood to the mesentery and the gut. This rare variation is seen in 2/100.000 population. The presence of this anomaly is associated with an increased risk of mesenteric ischemia in the case of proximal occlusion. Median arcuate ligament (MAL) syndrome is a controversial entity characterized by compression of the celiac axis by MAL causing post-prandial pain. We report the fourth case of MAL compression syndrome involving a CMT in the world.

Partial Atrioventricular Septal Defect in a Case of Bardet-Biedl Syndrome: A Rare Association

Bardet-Biedl syndrome (BBS) (MIM 209900) is a genetic disorder with a wide spectrum of clinical manifestations including retinal dystrophy, hypogenitalism, polydactyly, obesity, renal abnormalities and mental retardation. We describe a 13-year-old girl, a known case of Bardet-Biedl syndrome, who was going to undergo hysterectomy due to hydrometrocolpous. She was homozygous autosomal recessive for gene BS57. She was obese and had impaired vision, renal abnormality, borderline intelligence, recurrent urinary tract infection, menstrual problems, normal secondary sex chrematistics and corrected polydactylies. She had also big nose, thin upper lip, slightly everted lower lip, small mouth and retrognathia. Her electrocardiography showed incomplete right bundle branch block. We identified atrioventricular septal defect (AVSD). In conclusion, physicians who deal with cases who suffered from Bardet-Biedl syndrome, should be vigilant about seeking for identification of cardiac anomalies such as partial AVSD. This leads to earlier identification of the existing cardiovascular disease which facilitates appliance of curative measures.

Early Cranioplasty in an Apert's Syndrome Infant With Occipital Encephalocele.

Apert's syndrome (AS) is a rare congenital malformation characterized by distinctive clinical manifestations such as syndactyly of the extremities and midface retrusion, which set it apart from other syndromes. This condition often presents with craniosynostosis and, less commonly, central nervous system abnormalities like encephalocele. In this report, we present a typical case of Apert syndrome with an occipital encephalocele. The infant had plagio-brachycephaly due to craniosynostosis and required urgent repair of the occipital encephalocele. At 1 month of age, we performed both the encephalocele repair and early cranioplasty for autologous bone grafting. This case underscores the importance of early diagnosis and surgical interventions in Apert's syndrome cases with encephalocele.

A Case of Milk Alkali Syndrome: The Forgotten Diagnosis of Generalized Weakness and Altered Consciousness

This case reports outlines a 76-year-old male’s progression from papillary thyroid carcinoma diagnosis to the development of Calcium-Alkali Syndrome (CAS) following thyroidectomy. Initially presenting with thyroid mass, surgery was followed by generalized weakness and altered sensorium, investigations that revealed elevated calcium levels ,metabolic alkalosis and renal impairment . Diagnosis pointed to CAS, likely triggered by prescribed calcium and calcitriol post-surgery. Cessation of supplements and hydration resulted in resolution. While post-thyroidectomy hypocalcemia is anticipated, CAS poses challenges, especially with increasing calcium supplement use. This emphasizes the need for vigilant monitoring of electrolyte imbalances, particularly in regions with limited follow-up practices. Clinicians should balance preventing hypocalcemia without risking hypercalcemia, stressing the importance of timely identification and tailored interventions to prevent CAS complications. This case underscores the significance of recognizing CAS as a potential postoperative complication, urging vigilant monitoring and tailored management in similar clinical settings. J MEDICINE 2024; 25: 184-186

Recurrent infections and short stature Ó? Listening may be the key. A Bloom syndrome case report

Recurrent infections and short stature Ó? Listening may be the key. A Bloom syndrome case report

Multiple Evanescent White Dot Syndrome following COVID-19 Vaccination: Two Case Reports

Purpose: We present two cases of multiple evanescent white dot syndrome (MEWDS) following COVID-19 vaccination.Case summary: We present two cases of visual field defects following BNT162b2 (Pfizer-BioNTech, Kronach, Germany) COVID-19 vaccination. A 14-year-old male experienced reduced visual acuity in the temporal field of his left eye after his second dose. Similarly, a 38-year-old woman experienced decreased visual acuity in her right eye after her first dose. Notably, neither patient had pre-existing medical conditions or exhibited COVID-19 symptoms following vaccination. Funduscopic examination revealed multifocal peripapillary hyperreflective lesions in both cases. Visual field defects and hyperreflective lesions spontaneously resolved within 6 weeks, with normal visual acuity and fundus findings at the 7-month follow-up.Conclusions: The recent COVID-19 pandemic has led to a significant increase in vaccination rates. Notably, MEWDS demonstrated a significant association with previous vaccines, including influenza and hepatitis, and the cases describe herein also suggest a potential association between BNT162b2 vaccination and MEWDS.

Detection of decreased granules in neutrophils by automated hematology analyzers XR-1000 and UniCel DxH 800.

This study aimed to investigate the utility of neutrophil-related cell population data obtained by automated hematology analyzers in assessing myelodysplastic syndrome cases with decreased granules in neutrophils. A total of 108 subjects were classified into normal granule (n = 35), hypogranulation (n = 37), or hypergranulation (n = 36) groups. Neutrophil cell area and granule area were measured by ImageJ. All samples were analyzed on the XR-1000 and UniCel DxH 800, and neutrophil-related parameters were compared among the 3 groups. Neutrophil cell area and the ratio of the granular area showed significant differences among the 3 groups; they were the highest in the hypergranulation group and lowest in the hypogranulation group. XR-1000 data showed significant differences in NE-SFL and NE-FSC among the 3 groups (P < .0001). NE-SFL and NE-FSC discriminated most accurately hypogranulation group against other groups. UniCel DxH 800 data showed significant differences in MN-V-NE, MN-MALS-N, MN-UMALS-NE, SD-UMALS-NE (P <.01), MN-LMALS-NE, and SD-LMALS-NE (P <.05) among the 3 groups. The combination of SD-V-NE and SD-LMALS-NE discriminated most accurately the hypogranulation group against the other groups. NE-SFL and NE-FSC and the combination of SD-V-NE and SD-LMALS-NE are useful in detecting cases with decreased granules in neutrophils.

A case of Fanconi syndrome that developed following a year of consumption of a red yeast rice supplement.

Although some dietary supplements have been reported to cause renal dysfunction, there have been few reports of supplement-induced Fanconi syndrome. We present the case of a 56-year-old woman with Fanconi syndrome that developed after she consumed a red yeast rice supplement. She was referred to our hospital because of renal dysfunction, and was found to have electrolyte abnormalities, including hypophosphatemia and hypouricemia, renal diabetes, and hyperchloremic metabolic acidosis, and was, therefore, diagnosed with Fanconi syndrome. Renal biopsy revealed proximal tubular injury characterized by severely degenerated tubular epithelial cells as well as mild hypocellular fibrosis. We speculated that the red yeast rice supplement, which the patient had been consuming for approximately 1year, might be a cause of her syndrome, because reports of renal dysfunction associated with the consumption of red yeast rice supplements have emerged in Japan since 2024. After the supplement was discontinued and oral prednisolone treatment was initiated, the patient's renal function improved and her electrolyte abnormalities were ameliorated. Furthermore, even after tapering off and discontinuing the prednisolone over approximately 12weeks, her renal function remained. Because Fanconi syndrome may be caused by various exogenous substances, the taking of a thorough medical history is crucial, including with respect to the use not only of prescription medications, but also other substances, including supplements.

Birth defects in a rural province in Papua New Guinea

BackgroundGlobally, birth defects are the fourth most common cause of neonatal mortality. They cause substantial morbidity, and often long-term disability. Despite this, the impact of birth defects on public health...

Clinical Study of HELLP Syndrome and It's Outcome at Pravara Rural Hospital, Loni

Background: HELLP syndrome, a severe pregnancy complication characterized by hemolysis, elevated liver enzymes, and low platelet count, occurs in 0.5 to 0.9% of all pregnancies and in 10–20% of severe preeclampsia cases. It poses significant risks to both mother and fetus, presenting diagnostic and therapeutic challenges. Patients often experience epigastric or right upper quadrant pain, hypertension, proteinuria, fatigue, nausea, vomiting, sudden weight gain, and headaches. HELLP syndrome typically occurs in the second and third trimesters (27-37 weeks) and 15–30% of cases present postpartum. The exact causes remain unclear but may involve placental origins, autoimmune factors, gene mutations, or fatty acid oxidation disorders. Aims and Objectives: To analyze the clinical profile of HELLP syndrome cases and to assess maternal and perinatal outcomes, including morbidity and mortality. Material and Methods: This prospective cross-sectional study was conducted in the Obstetrics and Gynecology department at Pravara Rural Hospital, Loni, involving 45 patients with severe preeclampsia and eclampsia above 28 weeks of gestation diagnosed with HELLP syndrome. Patients were admitted to the ICU, and detailed histories and examinations were recorded. Patients were divided into two groups: those with HELLP syndrome (Group A) and those without (Group B). Results: Group A had a higher representation in the 20-22 age bracket, while Group B had more members aged 22-24. Cesarean sections were more common in Group A, whereas vaginal deliveries were more frequent in Group B. Blood pressure readings were higher in Group A. Maternal complications, such as abruption placentae, DIC, hepatic infarction, acute renal failure, and ascites, were more frequent in Group A, as were neonatal complications like IUGR, preterm delivery, neonatal thrombocytopenia, and RDS. Conclusion: The study reveals significant differences between patients with and without HELLP syndrome. Group A included younger patients, more first-time mothers, and a higher incidence of complications and mortality. These findings highlight the need for tailored management strategies for severe preeclampsia/eclampsia, especially in those with HELLP syndrome, to improve maternal and neonatal outcomes.

Retrograde and semantic amnesia in a case of post-treatment Lyme disease syndrome: did something lead to a psychogenic memory loss? A single-case study

ABSTRACT Objective: To describe a case of Post-Treatment Lyme Disease Syndrome (PTLDS) with an atypical cognitive profile. Method: A 41-year-old PTLDS patient underwent comprehensive neuropsychological testing and psychological assessment. Results: The patient exhibited impaired intensive attention but preserved selective attention. Executive functions were normal. Short-term and anterograde memory were intact, while retrograde and semantic memory were significantly impaired. The patient also experienced identity loss, specific phobias, dissociative symptoms, and depressed mood. Conclusions: Severe episodic-autobiographical and retrograde semantic amnesia was consistent with some reports of dissociative amnesia. Loss of identity and phobias were also highly suggestive of a psychogenic mechanism underlying amnesia.

Diagnosis and Treatment of Presumed Naltrexone-XR-precipitated Opioid Withdrawal in a Patient Chronically Treated With Buprenorphine-XR: A Case Report.

Naltrexone, buprenorphine, and methadone are Food and Drug Administration-approved medications for the treatment of opioid use disorder in the United States. Naltrexone, an opioid antagonist, can precipitate opioid withdrawal if administered too quickly after the use of full or partial opioid agonists for those with either dependence or use disorder. We describe a case of severe precipitated opioid withdrawal syndrome after reported buprenorphine extended-release (XR) administration, despite the patient having been stable on buprenorphine-XR for several years, with no missed doses or recent opioid use. Naltrexone levels were sent and helped to diagnose suspected inadvertent naltrexone-XR administration in this patient, which was likely the etiology of his precipitated opioid withdrawal syndrome. We suggest the use of high-dose buprenorphine, as well as adjunctive medications including benzodiazepines, as a treatment strategy for naltrexone-XR precipitated withdrawal in the setting of chronic buprenorphine-XR treatment.

Dextrose Injection in Stellate Ganglion Block: A Case Report

Complex regional pain syndrome (CRPS) is a debilitating condition with severe chronic pain in the affected regions of the body. Stellate ganglion block is used as one of the treatment modalities for sympathetically mediated chronic pain like Complex regional pain syndrome(CRPS) and various peripheral vascular diseases. 5%dextrose injection as compared to steroid injections have various beneficial effects for stellate ganglion block. We report a case of Complex regional pain syndrome (CRPS) with various motor, sensory and autonomic changes in her right upper limb.Ultrasound guided diagnostic right stellate ganglion block with 5% dextrose was done with immediate pain relief. Patient reported significant reduction in her symptoms (&gt;80% ).Later after 1 week C-arm guided radiofrquency of T2-T3 sympathetic gangion was performed .Use of 5% dextrose injection in pain medicine could be one of the promising methods for diagnosing and treating various painful conditions. Perineural dextrose injection in stellate gangion seems to be more beneficial compared to steroid injections due to the close vicinity of the gangion to various vascular structures in the neck.

Are the complications after laparo-assisted endo-rectal pull-through for Hirschsprung disease related to the change of the anal tone?

The main advantage of the laparo-assisted transanal endorectal pull-through technique (LA - TERPT) for Hirschsprung Disease (HD) is the respect to the rectal-anal anatomy. Postoperative complications have been observed recently. The present study aims to determine how often these postoperative complications occur in these patients. From January 2009 to December 2018, a retrospective analysis was conducted on 36 children (25 males) with HD who underwent LA-TERPT. Data were collected on the age of diagnosis and surgery, sex, the presence of other pathologies, and cases of enterocolitis. In all cases, anorectal manometry (ARM) was performed to evaluate the anal tone. The median age at diagnosis was 2 months and the mean age at surgery was 5 months. Nine related pathologies were identified: five cases of Down syndrome, one case of hypertrophic stenosis of the pylorus, atresia of the esophagus, polydactyly, and anorectal malformation. A patient with total colonic aganglionosis was identified through laparoscopic serummuscular biopsies. Enterocolitis was diagnosed in 7 cases before and 6 after surgery. At follow-up, the complications recorded were: 5 cases of constipation (treated with fecal softeners), one case of anal stenosis (patient with anorectal malformation), 16 cases of soiling (treated with enemas) and 1 child with fecal incontinence (treated with a transanal irrigation system). The ARM was performed in all 36 cases and showed normal anal tone, except for one case with anal hypotonia. LA-TERPT is an important surgical technique for HD. According to the literature, soiling is the most main complication after HD surgery, probably due to "pseudo-incontinence" with normal anal sphincter tone.

A case of hyperviscosity syndrome associated with Waldenström macroglobulinemia treated with membrane plasma exchange without predilution.

A 75-year-old man with blurred vision and nasal bleeding was diagnosed with hyperviscosity syndrome and central retinal vein occlusion secondary to Waldenström macroglobulinemia. Serum total protein and IgM levels were undetectable. Because of the severe symptoms, we determined that immediate plasma-exchange treatment was required to decrease the blood viscosity. The initial plasma exchange was performed using the membrane isolation method with a predilution standby. A saline predilution replacement was prepared to decrease the total membrane pressure (TMP); however, the predilution protocol was not used because the planned treatment volume could be achieved without increasing the TMP. After two consecutive days of membrane plasma exchange, all serum biochemical tests were measurable, and IgM was below 4000mg/dL. After chemotherapy, his visual symptoms improved, and he was discharged. Since it is difficult to assess the risk of elevated TMP prior to initial plasma exchange, membrane plasma exchange with a predilution standby may be a useful strategy for initial plasma exchange for hyperviscosity syndrome in terms of safety and efficiency.

Rare Case of Klippel Feil Syndrome Associated with Mirror Movements

Klippel Feil Syndrome (KFS) is a multisystem disorder with the typical clinical trial of short neck, restriction of headand neck movements and low posterior hairline and associated with anomalies of the urogenital, musculoskeletal, neurological andcardiovascular systems. Here is a case report of a young boy with history of abnormal head and upper limbs movements alongwith repeated bowing of head since the age of 6 months. He also had frequent falls with repeated minor trauma to the face.Antenatal and peripartum period was uneventful and child had no neonatal complications with normal development. Onexamination the child had abnormal head position with bowing, short neck and low hair line. Musculoskeletal system examinationrevealed decreased range of passive movements at cervical spine extension and lateral flexion with no focal neurological deficits.Further examination revealed Mirror movements (synkinesis) in the upper limbs. Mirror movements are the involuntarymovements of one body part that mirror intentional movements on the opposite side. Other Systemic examinations were normal.CT Cervical spine showed fusion of the upper three cervical vertebrae and the child was diagnosed as a case of klippel feil syndrometype 2 presenting with mirror movements. This rare case of klippel feil syndrome is being presented with the aim that such casesshould be detected and treated at an early stage to reduce the cosmetic &amp; social stigma to the patient and parents. This casereport also gives a brief overview of associated features of KFS along with its management.

Organ weights and length anthropometry measures at autopsy for sudden infant death syndrome cases and other infant deaths in the Chicago infant mortality study.

Organ weights are a possible diagnostic or pathophysiological clue to distinguishing sudden infant death syndrome (SIDS) cases from other infant deaths but suffer from major confounding. Using autopsy data from the Chicago Infant Mortality Study, a majority African-American case-control study of deceased infants under 1 year conducted 1993-96, we assessed differences in the weights of brain, thymus, kidneys, lungs, liver, spleen, total body, and four length anthropometry measures in SIDS-diagnosed infants compared to controls. Using exact and coarsened matching, we ran Bayesian linear models with these anthropometry outcomes and repeated the analyses substituting the corresponding fitted allometrically-scaled organ weight indices to account for body size. After detailed analysis and adjustment for potential confounders, we found that matched SIDS infants were generally bigger than controls, with higher mean brain, liver, spleen, thymus, lung, and total body weights, and higher mean head and chest circumference, crown-heel, crown-rump lengths. SIDS infants also had higher mean thymus, liver, spleen, lung and total body weight indices. The association with thymus weight was proportionately greater in magnitude than any other outcome measure and independent of body size. The results of these more detailed analyses are consistent with recent findings from other studies with differing racial compositions, and substantially confirm the primary organ sites for more detailed mechanistic research into the biological dysregulation contributing to underlying pathophysiology of SIDS.