scholarly journals Kartagener’s syndrome: review of a case series

2015 ◽  
Vol 10 ◽  
Author(s):  
Nicola Ciancio ◽  
Maria Margherita De Santi ◽  
Raffaele Campisi ◽  
Laura Amato ◽  
Giuseppina Di Martino ◽  
...  
Keyword(s):  
Cross Sections ◽  
Genetic Disorder ◽  
Clinical Manifestations ◽  
Case Series ◽  
Central Position ◽  
Specialized Center ◽  
Clinical Presentations ◽  
Pathological Differentiation ◽  
Dynein Arms

Background: Kartagener Syndrome (KS) is a rare autosomal recessive genetic disorder, resulting in a group of clinical manifestations, including bronchiectasis, chronic pansinusitis and situs inversus. Methods: We hereby reviewed eight cases of this rare entity selected from patients attending our outpatients Respiratory Unit since 2006. Samples of respiratory epithelium were obtained with the method of nasal brushing and sent to a specialized center in order to be studied with electron microscopy. At least 50 cross sections of different cilia from different cells were observed in each specimen to study the axonemal structure. Electron micrographs were taken at a magnification of X 50,000 to determine the orientation of the cilia and at a magnification of X 110,000 to study the axonemal pattern. The incidence of abnormal cilia was expressed as a percentage. Results: We observed different ultrastructural defects in our KS patients, including absence of outer dynein arms, absence of outer and inner dynein arms, and absence of the central pair with transposition of a peripheral doublet into the central position. Patient’s follow up lasted till 2014, however two patients with more severe clinical behavior died before. Conclusions: This is a review of a case series, yet our data has shown that nasal brushing with ultrastructural pathological differentiation may be useful to identify patients with high risk and to develop more complex clinical presentations.

scholarly journals Middle Fossa Encephaloceles Treated via the Transmastoid Approach: A Case Series and Review of the Literature

2021 ◽  
Author(s):  
Tyler Scullen ◽  
Zane Freeman ◽  
Mansour Mathkour ◽  
Joseph Lockwood ◽  
Rizwan Aslam ◽  
...  
Keyword(s):  
Average Length ◽  
Clinical Manifestations ◽  
Case Series ◽  
Cerebrospinal Fluid Leak ◽  
Middle Fossa ◽  
Short Term ◽  
Clinical Presentations ◽  
Tegmen Tympani ◽  
Transmastoid Approach

Abstract BACKGROUND Middle fossa (MF) encephaloceles are rare lesions resulting from herniation through defects in the tegmen tympani or mastoideum. Underlying etiologies and clinical presentations are variable. Surgical goals include fistula obliteration, resection of nonfunctioning parenchyma, and dehiscence repair. The middle cranial fossa approach (MCFA), transmastoid approach (TMA), and combined (MCFA + TMA) approaches have been described. The minimally invasive TMA provides excellent exposure of the pathology and allows for ample working room to repair the defect. OBJECTIVE We present short-term follow-up results in patients treated via the TM repair at our institution. METHODS A retrospective review of patients with symptomatic encephaloceles treated via the TMA by our multidisciplinary team. Patient demographics, clinical presentations, intraoperative findings, repair technique, and outcomes were highlighted. RESULTS A total of 16 encephaloceles in 13 patients were treated. Defect etiologies included spontaneous (50.0%), secondary to chronic infection (25.0%), or cholesteatoma (18.8%). Defects were most often within the tegmen mastoideum (68.8%). Average length of surgery was 3.3 h (95% CI: 2.86-3.67) and length of stay 3.9 d (95% CI: 3.09-4.79). On short-term follow-up (average 11.5 mo), no patients experienced postoperative cerebrospinal fluid leak or recurrence. The majority of patients (83.3%) experienced confirmed improvement or stabilization of hearing. CONCLUSION MF encephaloceles present with various clinical manifestations and result from multiple underlying etiologies. The TMA is an alternative to craniotomy and our short-term results suggest that this approach may be utilized effectively in appropriately selected cases.

scholarly journals Clinical presentations and long term prognosis of childhood onset polyarteritis nodosa in single centre of Korea

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Jeong-Seon Lee ◽  
Joong-Gon Kim ◽  
Soyoung Lee
Keyword(s):  
Polyarteritis Nodosa ◽  
Clinical Manifestations ◽  
Long Term Outcomes ◽  
Childhood Onset ◽  
Laboratory Findings ◽  
Clinical Presentations ◽  
Long Term Prognosis ◽  
Digital Amputation

AbstractChildhood-onset polyarteritis nodosa (PAN) is a rare and systemic necrotising vasculitis in children affecting small- to medium-sized arteries. To date, there have been only a few reports because of its rarity. Thus, we aimed to investigate the clinical manifestations, laboratory findings, treatment, and long-term outcomes in patients with childhood-onset PAN and to evaluate the usefulness of the paediatric vasculitis activity score (PVAS). We retrospectively analysed the data of nine patients with childhood-onset PAN from March 2003 to February 2020. The median ages at symptom onset, diagnosis, and follow-up duration were 7.6 (3–17.5), 7.7 (3.5–17.6), and 7.0 (1.6–16.3) years, respectively. All patients had constitutional symptoms and skin manifestations, while five exhibited Raynaud’s phenomenon. Organ involvement was observed in one patient. The median PVAS at diagnosis was 7 (range: 2–32). Prednisolone was initially used for induction in all patients, and other drugs were added in cases refractory to prednisolone. All patients survived, but three patients with high PVAS at diagnosis experienced irreversible sequelae, including intracranial haemorrhage and digital amputation. In conclusion, early diagnosis and treatment may minimise sequelae in patients with childhood-onset PAN. This study suggests that high PVAS score at diagnosis may be associated with poor prognosis.

scholarly journals Autoimmune encephalitis in a South Asian population

BMC Neurology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Nilanka Wickramasinghe ◽  
Dhanushka Dasanayake ◽  
Neelika Malavige ◽  
Rajiva de Silva ◽  
Thashi Chang
Keyword(s):  
Sri Lanka ◽  
Psychiatric Symptoms ◽  
South Asians ◽  
Laboratory Data ◽  
Clinical Manifestations ◽  
Autoimmune Encephalitis ◽  
Asian Population ◽  
South Asian Population ◽  
Clinical Presentations

Abstract Background Autoimmune encephalitis (AE) is now considered a main, potentially curable cause of encephalitis, but remains conspicuously underreported from South Asia. We studied the clinical characteristics in relation to their antibody status and outcomes of patients presenting with AE in Sri Lanka. Methods Patients admitting to government hospitals who were clinically suspected of AE by an on-site neurologist were prospectively recruited over a period of 12 months. Sera and cerebrospinal fluid were tested for NMDAR, AMPAR1, AMPAR2, LGI1, CASPR2, GABARB1/B2 antibodies (Ab) using commercial cell-based assays. Demographic, clinical and laboratory data were compiled into an investigator-administered proforma. Patients were reviewed at 1 year follow up either in person or via telephone. Results One-hundred and forty-two patients from 21 of 25 districts in Sri Lanka (median age = 20.5 years; range 1–86 years; females = 61.3%) were recruited. Of them, 65 (45.8%; median age = 19 years; range 1–86 years; females = 64.6%) fulfilled diagnostic criteria for probable NMDAR-antibody encephalitis (NMDARE) and 6 (4.2%; median age = 44 years; range 28–71 years; females = 83.3%) limbic encephalitis (LE). Abnormal behaviour (95.3%), seizures (81.5%) and movement disorders (69.2%) were the most frequent clinical manifestations of probable NMDARE. NMDAR-antibodies were detectable in 29 (44.6%) and not detectable in 36 in CSF of probable-NMDARE patients. Abnormal EEG was more frequent (p = 0.003) while a worse outcome (OR = 2.78; 95% CI = 0.88–9.09) and deaths (OR = 2.38; 95% CI = 0.67–8.33) were more likely in antibody-negative than antibody-positive probable-NMDARE. Most patients with LE had amnesia (50%) and/or confusion (100%) with agitation (83.3%) and seizures (100%) but none had detectable antibodies to any of the antigens tested. Conclusions NMDARE is the commonest type of AE among South Asians as is the case worldwide. Clinical presentations of NMDARAb-positive and NMDARAb-negative AE patients do not significantly differ but EEG may be a useful marker of an autoimmune basis for psychiatric symptoms.

Three Patients with CPT1A Deficiency: Literature Review and Case Series

2020 ◽  
Author(s):  
Naser Ali Mirhosseini ◽  
Mahdieh Saatchi ◽  
Sana Taghiyar
Keyword(s):  
Genetic Disorder ◽  
Case Series ◽  
Autosomal Recessive Inheritance ◽  
Abnormal Liver Function Test ◽  
Medical Procedures ◽  
Main Method ◽  
Appropriate Treatment ◽  
Liver And Kidney ◽  
Renal Tubular

Background: Carnitine palmitoyltransferase 1A deficiency is a rare genetic disorder with autosomal recessive inheritance pattern of fatty acid metabolism secondary to CPT1A mutation. Several dozen infants and children have been described with a deficiency of the liver and kidney CPT1 isoenzyme (CPT1-A). Clinical manifestation includes fasting-induced hypoketotic hypoglycemia, occasionally with extremely abnormal liver function test (LFT) and rarely with renal tubular acidosis. Acyl carnitine analysis has been the main method for the diagnosis of CPT1A deficiency.  Prompt treatment of hypoglycemia includes intravenous fluid containing 10% dextrose. To prevent hypoglycemia, infants should eat frequently during the day and have cornstarch continuously at night. Fasting should not last more than 12 hours during illness, surgery, or medical procedures. Case Presentation: We reported three patients with CPT1A deficiency presented with hypoglycemia and Reye like syndrome in early childhood that with early diagnosis and treatment they are well in follow-up. Conclusion: Prognosis of this genetic disorder will be good with appropriate treatment.

scholarly journals Therapeutic evaluation of sclerotherapy for limb venous malformations: A case series

2020 ◽  
Vol 35 (9) ◽  
pp. 663-671
Author(s):  
Tenghui Zhan ◽  
Fanggang Cai ◽  
Pingfan Guo ◽  
Yujie Lian ◽  
Hui Zhuang ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Doppler Ultrasound ◽  
Clinical Examination ◽  
Clinical Manifestations ◽  
Case Series ◽  
Venous Malformations ◽  
Resonance Imaging ◽  
Percutaneous Sclerotherapy

Objectives To examine three different methods for evaluating the effect of percutaneous sclerotherapy on limb venous malformations in a series of patients with a relatively long follow-up. Method The study was a retrospective study. Results Thirty-eight patients treated with percutaneous sclerotherapy underwent sclerotherapy, with a median number of sessions of 4 (range, 1–10). They were followed up for 1–60 months (average 12.5 months). The kappa between clinical manifestations and Doppler ultrasound was 0.684 ( P < 0.001). The kappa between clinical manifestations and magnetic resonance imaging was 0.217 ( P = 0.006). The kappa between Doppler ultrasound and magnetic resonance imaging was 0.323 ( P < 0.001). The rate of grade IV patients evaluated by clinical manifestations was significantly higher than that by Doppler ultrasound and magnetic resonance imaging. Conclusions Magnetic resonance imaging is the gold standard for VM imaging. Its consistency with clinical examination and Doppler ultrasound is poor, and Doppler ultrasound and clinical examination could be more appropriate for follow-up imaging after sclerotherapy.

Scrub Typhus with Varied Clinical Presentations

2017 ◽  
Vol 13 (04) ◽  
pp. 319-322
Author(s):  
Susrita Banerjee ◽  
Satyabrata Roychowdhuri ◽  
Mihir Sarkar
Keyword(s):  
Scrub Typhus ◽  
Care Center ◽  
Tertiary Care ◽  
Clinical Manifestations ◽  
Case Series ◽  
Dengue Shock Syndrome ◽  
Tertiary Care Center ◽  
Eastern India ◽  
Clinical Presentations ◽  
Diagnostic Difficulties

AbstractWe present four cases of pediatric scrub typhus from a tertiary care center of eastern India, emphasizing on varied unusual clinical manifestations posing diagnostic difficulties. A low index of suspicion is required to prevent under diagnosis. We report a case series of four patients with scrub typhus having uncommon clinical manifestations (two patients with hemophagocytic lymphohistiocytosis, one patient with myocarditis, and one patient presenting with shock reminiscent of dengue shock syndrome). The response to doxycycline was good, with fever subsiding within 48 to 72 hours of starting the treatment. Three out of four cases completely recovered once appropriate medication was given.

scholarly journals Clinical and event-based outcomes of patients with mucopolysaccharidosis VI receiving enzyme replacement therapy in Turkey: a case series

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Aslı İnci ◽  
İlyas Okur ◽  
Leyla Tümer ◽  
Gürsel Biberoğlu ◽  
Murat Öktem ◽  
...  
Keyword(s):  
Urinary Incontinence ◽  
Respiratory Tract Infections ◽  
Clinical Manifestations ◽  
Case Series ◽  
Enzyme Replacement ◽  
Mps Vi ◽  
Cardiac Valve Disease ◽  
Tract Infections ◽  
Event Based

Abstract Background The objective of this study was to describe clinical manifestations and events of patients with mucopolysaccharidosis (MPS) VI in Turkey who are treated with galsulfase enzyme replacement therapy (ERT). Clinical data of 14 children with MPS VI who were followed up at the Department of Pediatrics of the Gazi University Faculty of Medicine in Ankara, Turkey were retrospectively collected from the patients’ medical records. Patients were selected based on availability of a pre-ERT baseline and follow-up clinical data for a similar period of time (1.9–3.2 years). Event data (occurrence of acute clinical events, onset of chronic events, surgeries) collected during hospital visits and telemedicine were available for up to 10 years after initiation of ERT (2.5–10 years). Results Age at initiation of ERT ranged from 2.8 to 15.8 years (mean age 7.5 years). All patients presented with reduced endurance and skeletal abnormalities (dysostosis multiplex) on radiography. Other common clinical manifestations were cardiac valve disease (N = 13), short stature (N = 11), cranial abnormalities on MRI (N = 10), spinal abnormalities on MRI (N = 7), and mild cognitive impairment (N = 6). School attendance was generally poor, and several patients had urinary incontinence. After 1.9 to 3.2 years of ERT, most patients showed improvements in endurance in the 6-min walk test and 3-min stair climb tests; the frequency of urinary incontinence decreased. ERT did not seem to prevent progression of cardiac valve disease, eye disorders, hearing loss, or bone disease. Long-term event-based data showed a high incidence of respiratory tract infections, adenotonsillectomy/adenoidectomy, reduced sleep quality, sleep apnea, and depression before initiation of ERT. The number of events tended to remain stable or decrease in all patients over 2.5–10 years follow-up. However, the nature of the events shifted over time, with a reduction in the frequency of respiratory tract infections and sleep problems and an increase in ophthalmologic events, ear tube insertions, and depression. Conclusions This case series shows the high disease burden of the MPS VI population in Turkey and provides a unique insight into their clinical journey based on real-life clinical and event-based data collected before and after initiation of ERT.

scholarly journals Rare localization of angiolipoma in the gastrointestinal tract: a case series

2020 ◽  
Vol 48 (9) ◽  
pp. 030006052093858
Author(s):  
Juan Sun ◽  
Weiming Kang ◽  
Ziyang Zeng ◽  
Zimu Zhang ◽  
Xianze Wang
Keyword(s):  
Gold Standard ◽  
Benign Tumor ◽  
Clinical Manifestations ◽  
Case Series ◽  
Diagnostic Techniques ◽  
Gi Tract ◽  
Elderly Men ◽  
Upper Gi ◽  
Clinical Presentations ◽  
Complete Surgical Resection

Objective Angiolipoma is a benign tumor that rarely occurs in the gastrointestinal (GI) tract. This case series was performed to increase clinicians’ understanding of the diagnosis and management of GI angiolipoma. Methods We evaluated the clinical presentations, diagnoses, and treatments of 3 patients with angiolipoma in the upper GI tract in our hospital and 27 cases reported in the literature. Results Among all 30 cases of GI angiolipoma, 2 originated in the esophagus, 4 in the stomach, 2 in the duodenum, 1 in the jejunum, 7 in the ileum, 1 in the cecum, 9 in the colon, 2 in the rectum, and 2 in both the duodenum and colon. Conclusion Angiolipoma of the GI tract may be more likely to occur in middle-aged and elderly men and be located in the ileum and colon. The clinical manifestations generally involve upper GI hemorrhage and lower GI pain and obstruction. Computed tomography and endoscopy may be effective diagnostic techniques, but postoperative histopathologic examination is still the gold standard. The management of angiolipoma in the GI tract depends on the size and type of lesion. Most cases in the present series were managed by complete surgical resection, after which no recurrence was found.

scholarly journals Screening Children with a Family History of Central Congenital Hypoventilation Syndrome

2020 ◽  
Vol 2020 ◽  
pp. 1-4
Author(s):  
Hina Emanuel ◽  
Kimberly Rennie ◽  
Kelly Macdonald ◽  
Aravind Yadav ◽  
Ricardo A. Mosquera
Keyword(s):  
Family History ◽  
Genetic Disorder ◽  
Neuropsychological Testing ◽  
Clinical Manifestations ◽  
Case Series ◽  
Blood Gas Analysis ◽  
Cor Pulmonale ◽  
Gas Analysis ◽  
Neuropsychological Evaluations ◽  
Hypoventilation Syndrome

Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder of an autonomic nervous disorder that affects breathing. It is characterized by respiratory insufficiency secondary to insensitivity to hypoxemia and hypercarbia, particularly during sleep leading to persistent apnea. We report four individuals across two generations harboring heterozygous 25 polyalanine repeats mutations (PARMs) in PHOX2B with a varying degree of phenotypic clinical manifestations. Two family members who reported to be “asymptomatic” were subsequently diagnosed with CCHS, based on genetic testing, obtained because of their family history. Genetic studies in the family including a mother and three offsprings revealed in-frame five amino acid PARMs of PHOX2B consistent with CCHS in addition to full clinical assessment. All affected individuals had evidence of hypercapnia on blood gas analysis with PCO2 in the range of 32–70 (mean; 61). Nocturnal polysomnogram revealed evidence of hypoventilation in two individuals (1 offspring and mother) with the end-tidal CO2 median of 54. Magnetic resonance imaging of brain revealed no abnormalities in the brain stem. There was no evidence of cor pulmonale on echocardiograms in all individuals. Neuropsychological testing was conducted on all four patients; two patients (mother and 1 offspring) had normal results, while the other two offspring exhibited some impairments on neuropsychological testing. This case series emphasizes the importance of screening first-degree relatives of individuals with confirmed CCHS to minimize complications associated with long-term ventilatory impairment. It also suggests that some patients with CCHS should undergo neuropsychological evaluations to assess for cognitive weaknesses secondary to their CCHS.

Clinical findings in five Turkish patients with citrin deficiency and identification of a novel mutation on SLC25A13

2020 ◽  
Vol 33 (1) ◽  
pp. 157-163 ◽  
Author(s):  
Melis Demir Köse ◽  
Mehtap Kagnici ◽  
Taha Reşit Özdemir ◽  
Cahit Barış Erdur ◽  
Gülin Erdemir ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Genetic Disorder ◽  
Laboratory Data ◽  
Clinical Manifestations ◽  
Case Series ◽  
Clinical Findings ◽  
First Case ◽  
Age Related ◽  
Citrin Deficiency ◽  
Turkish Patients

AbstractBackgroundCitrin deficiency (CD) is an autosomal recessive genetic disorder caused by a defect in the mitochondrial aspartate/glutamate antiporter, citrin. Three clinical manifestations have been described until today.Case presentationWe reported 5 CD patients from two families. Four patients were male and one patient was female. Two of them have NICCD (neonatal intrahepatic cholestasis caused by citrin deficiency); three of them have CTLN2 (adult-onset type II citrullinemia). Both NICCD patients showed typical clinical and biochemical changes with a diagnosis confirmed by mutations in the SLC25A13 gene. We detected a previously unreported homozygous novel mutation c.478delC (L160Wfs*36 ) on the SLC25A13 gene. All of the CTLN2 patients were siblings. Proband was a 15-year-old mentally retarded and autistic male who had admitted to our emergency with disorientation. Laboratory data showed hyperammonemia and citrullinemia.ConclusionsTwo different profiles of age-related CD have been depicted with this article. It has been aimed to underline that the CD can be observed in different forms not only in neonatals or little infants but also in adolescents. This article is the first case series that covers both NICCD and CTLN2 cases together and that has been published in Turkey. Considering the fact that especially the majority of CTLN2 cases have been identified in Asian countries, our article has vital importance in terms of defining phenotypic features of the disease.

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