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.

Congenital Nasal Pyriform Aperture Stenosis: Diagnosis and Management

2009 ◽  
Vol 46 (3) ◽  
pp. 262-267 ◽  
Author(s):  
Marion Devambez ◽  
Alexis Delattre ◽  
Pierre Fayoux
Keyword(s):  
Surgical Treatment ◽  
Genetic Disorder ◽  
Tertiary Care ◽  
Case Series ◽  
University Hospital ◽  
Treatment Modalities ◽  
Nasal Decongestants ◽  
Sublabial Approach ◽  
Pyriform Aperture

Objectives: To review diagnosis and treatment modalities in congenital nasal pyriform aperture stenosis in a newborn population. Study Design: A 6-year retrospective case series review. Mean follow-up of 21.8 months. Setting: University hospital, tertiary care center. Patients: Twenty-one consecutive patients treated for congenital nasal pyriform aperture stenosis. Diagnosis was suspected on physical examination and confirmed by computed tomography scan. Associated abnormalities were present in 15 patients. Surgical Treatment: Nineteen patients underwent surgical treatment focused on external bony margins of pyriform aperture and the osseous anterior edge of the inferior turbinate, drilling by a sublabial approach and associated with a partial turbinectomy in seven cases. A stent was placed for 7 to 10 days. A conservative treatment based on topical nasal decongestants and gastroesophageal reflux treatment was proposed for two patients. Results: Postoperative follow-up revealed septal ulceration in five cases with septal perforation in one case and development of synechiae in two cases. Follow-up revealed normal nasal breathing and pyriform aperture growth after surgery. Conclusion: Our experience confirmed the link described between congenital nasal pyriform aperture stenosis and holoprosencephaly, but associated extracraniofacial malformations suggest that congenital nasal pyriform aperture stenosis should be integrated in a systemic malformative syndrome or genetic disorder and lead us to propose an exhaustive dysmorphology assessment. Some infants may be treated by conservative management, and severely affected patients may undergo surgery by a sublabial approach.

scholarly journals A Retrospective 10-Year Analysis of Water Absorbent Bead Ingestion in Children

2018 ◽  
Vol 2018 ◽  
pp. 1-4 ◽  
Author(s):  
Feride Mehmetoğlu
Keyword(s):  
Emergency Service ◽  
Relevant Literature ◽  
Case Series ◽  
Medical Procedures ◽  
Retrospective Case ◽  
Small Children ◽  
X Ray ◽  
Asymptomatic Patients ◽  
Laboratory Investigations

Aim. This retrospective case series was designed to evaluate the clinical experience of pediatric patients who had ingested water absorbent beads (WABs) and review the relevant literature.Materials and Methods. A retrospective chart analysis of 21 children who were admitted to the emergency service or outpatient clinic with complaints of swallowing WABs during a 10-year period was performed. The patients were divided into two groups: 6 patients who were hospitalized and 15 patients who were observed as outpatients for groups 1 and 2, respectively. All data were screened with respect to presentation, age, gender, clinical and radiological findings, modalities of treatment, and follow-up.Results. All patients were asymptomatic with uneventful outcomes. Laboratory studies, X-ray, and ultrasound examinations revealed normal results. None of the patients underwent surgery or other medical procedures. Gastrointestinal system obstruction or any other pathological findings were not detected after WAB ingestion. No complications were identified during follow-up.Discussion. This first clinical study showed that asymptomatic patients do not require inpatient observation and laboratory investigations, X-ray, and ultrasound. However, results of the present study cannot be generalized to children of all ages due to the few cases of bowel obstruction reported to date in small children.

scholarly journals Breaking the myth: All carcinoma cervix presenting as pyometra will have only palliative treatment

2016 ◽  
Author(s):  
C. Aarthi ◽  
A. C. Senthil Kumar ◽  
P. Sasireka
Keyword(s):  
Case Series ◽  
Cardiac Risk ◽  
Early Carcinoma ◽  
Age Group ◽  
Carcinoma Cervix ◽  
Appropriate Treatment ◽  
End Of Treatment ◽  
Intravenous Antibiotics ◽  
Disease Free

Introduction: Carcinoma cervix is the second most common female carcinoma. Every year in India, 1,22,844 women are diagnosed with carcinoma cervix and of them 67,477 die. Carcinoma cervix rates among women in the age group between 30-64 has decreased by 1.8% per year on average but still date account for 16%. Of these, advanced carcinoma are about 80% and early are only 20%. Case Series: We are reporting 5 consecutive early carcinoma cervix cases who presented with pyometra and got treated at our hospital from April 2015-September 2015. Cases of early carcinoma cervix presented with pyometra were treated by pyometra drainage, intravenous antibiotics and appropriate treatment in the form of surgery (4 cases underwent Wertheim’s hysterectomy and 1 case had radical chemo radiation as she opted for same in view of high cardiac risk for anaesthesia). All 5 of them are disease free at the end of treatment with follow up of minimum 4 months duration (range 4-10). Conclusion: The idea is to emphasize that all carcinoma cervix with pyometra are not necessarily advanced and can still be given radical treatment like surgery or radiotherapy after pyometra drainage.

scholarly journals Acidose Tubular Renal Distal: Expressão Clínica Variável na Mesma Família

2019 ◽  
Vol 32 (7-8) ◽  
pp. 542
Author(s):  
Daniela Ramos ◽  
Sofia Reis ◽  
Carolina Cordinhã ◽  
Carmen Do Carmo ◽  
Clara Gomes ◽  
...  
Keyword(s):  
Renal Tubular Acidosis ◽  
Chronic Renal Disease ◽  
Genetic Disorder ◽  
Distal Renal Tubular Acidosis ◽  
Arterial Blood Gas ◽  
Arterial Blood ◽  
First Case ◽  
Hyperchloremic Metabolic Acidosis ◽  
Renal Tubular

Primary distal renal tubular acidosis is a genetic disorder characterized by the inability in acidification of urine. Symptoms are usually non-specific and highly variable. We described six cases in a family with four generations affected. The first case was diagnosed in a 3-year-old child presenting with hematuria and urolithiasis. Later, his sister, sons and two nephews were studied. Although asymptomatic, they all had nephrocalcinosis and hyperchloremic metabolic acidosis with normal anionic gap, except one case with normal arterial blood gas test but with nephrocalcinosis and inability of urinary acidification. At follow-up, they all maintained nephrocalcinosis, the index case had acute renal damage and developed hypertension, but none developed chronic renal disease. The diagnosis of autosomal dominant distal renal tubular acidosis is generally made later and patients tend to present with milder disease. But the condition may manifest early and have a variable phenotypic severity spectrum. Carrying out screening through assessment of family history enables an earlier diagnosis while also allowing treatment to start sooner.

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 Revisiting hereditary tyrosinemia Type 1—spectrum of radiological findings

2019 ◽  
Vol 5 (2) ◽  
pp. 20180001 ◽  
Author(s):  
Sana Shaikh ◽  
Asma Qureshi ◽  
Syed Mohammad faiq
Keyword(s):  
Growth Failure ◽  
Autosomal Recessive Inheritance ◽  
Abdominal Distension ◽  
Tubular Damage ◽  
Tubular Dysfunction ◽  
Renal Tubular Dysfunction ◽  
Appropriate Treatment ◽  
Fumarylacetoacetate Hydrolase ◽  
Renal Tubular ◽  
Hereditary Tyrosinemia

Tyrosinemia is a rare metabolic disease showing autosomal recessive inheritance associated with a deficiency of the enzyme fumarylacetoacetate hydrolase. Absence of this enzyme results in the accumulation of succinylacetone in the tissues which predominantly results in liver injury, renal tubular damage, and neurological manifestation resembling porphyrias. The complications that can develop without appropriate treatment include renal tubular dysfunction, growth failure, rickets, neurological crises, hepatomegaly, and possible hepatocellular carcinoma. We describe a case of 18-month-old child who presents with fever and gradually progressive abdominal distension. Laboratory and radiological investigations were done that lead to the diagnosis of this rare entity.

scholarly journals Guided Growth in Leg Length Discrepancy in Beckwith-Wiedemann Syndrome: A Consecutive Case Series

Children ◽  
2021 ◽  
Vol 8 (12) ◽  
pp. 1152
Author(s):  
Maurizio De Pellegrin ◽  
Lorenzo Brogioni ◽  
Guy Laskow ◽  
Graziano Barera ◽  
Roberta Pajno ◽  
...  
Keyword(s):  
Genetic Disorder ◽  
Case Series ◽  
Invasive Procedure ◽  
Leg Length Discrepancy ◽  
Vascular Lesions ◽  
Abdominal Wall Defects ◽  
Leg Length ◽  
Guided Growth ◽  
Length Discrepancy

Beckwith-Wiedemann Syndrome (BWS) is a rare genetic disorder characterized by overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycemia, predisposition to embryonal tumor, lateralized overgrowth, and leg length discrepancy (LLD), which can affect normal posture and gait. Aim of this study was to evaluate the effects of guided growth (temporary epiphysiodesis technique) as LLD management in BWS patients. Between 2007 and 2021, 22 BWS patients (15 F, 7 M) with a mean age of 7.9 years (2.9–14.4) and a mean LLD at first surgery of 3.65 cm (2–10), underwent temporary proximal tibial (PTE) and distal femur epiphysiodesis (DFE). In 18 patients the first surgical procedure was PTE, in one, DFE, and in 3 cases, PTE and DFE at the same time, respectively. Eleven patients reached equality of leg length after a mean follow-up of 7.7 years (3.7–13.0) and mean age of 13.3 years (12.7–27.5); 10 patients underwent 3 surgical procedures, one 7 procedures. Fifteen patients had no complications. No severe complications, infection, articular stiffness, or neuro-vascular lesions occurred in remaining patients; complications included secondary varus or valgus axial deviation in a total of 6 patients, and two screw breakages in two patients. Guided growth as a minimally invasive procedure seems efficient for LLD treatment with low complication rate in BWS patients.

scholarly journals Ceftriaxone for the Treatment of Chronic Bacterial Prostatitis: A Case Series and Literature Review

Antibiotics ◽  
2022 ◽  
Vol 11 (1) ◽  
pp. 83
Author(s):  
Sander G. Kuiper ◽  
Maarten Ploeger ◽  
Erik B. Wilms ◽  
Marleen M. van Dijk ◽  
Emiel Leegwater ◽  
...  
Keyword(s):  
Literature Review ◽  
Oral Treatment ◽  
Treatment Options ◽  
Case Series ◽  
Chronic Bacterial Prostatitis ◽  
E Coli ◽  
Early Withdrawal ◽  
Bacterial Prostatitis ◽  
Appropriate Treatment

Chronic bacterial prostatitis is increasingly difficult to treat due to rising antimicrobial resistance limiting oral treatment options. In this case series, 11 men with CBP (including patients with urological comorbidities) due to multi-resistant E. coli were treated with once-daily ceftriaxone intravenously for 6 weeks. Nine patients were clinically cured at 3 months follow up. No early withdrawal of medication due to side effects occurred. A literature review was conducted to describe the prostate pharmacokinetics of ceftriaxone and its use in prostatic infection. In conclusion, ceftriaxone can be considered an appropriate treatment of chronic bacterial prostatitis.

scholarly journals DOP79 Primary hypogammaglobulinemia with IBD-like features: An ECCO CONFER Multicenter Case Series

2021 ◽  
Vol 15 (Supplement_1) ◽  
pp. S111-S111
Author(s):  
A Albshesh ◽  
P Eder ◽  
D G Ribaldone ◽  
B Oldenburg ◽  
N K De Boer ◽  
...  
Keyword(s):  
Case Reports ◽  
Case Series ◽  
Iga Deficiency ◽  
Clinical Feature ◽  
Aminosalicylic Acid ◽  
Igg Subclass Deficiency ◽  
Selective Iga Deficiency ◽  
Appropriate Treatment ◽  
One Year

Abstract Background The most commonly recognized clinical feature of hypogammaglobulinemia is recurrent infections with high prevalence of gastrointestinal manifestations. In some cases, clinical and endoscopic features are indistinguishable from those of inflammatory bowel disease (IBD). Methods This was a multicenter case series performed as a part of the Collaborative Network of Exceptionally Rare case reports (CONFER) project. Results This report includes 25 patients with primary hypogammaglobinemia and IBD-like features [20 males and 5 females, mean age 50 years (±21.7 SD)]. Crohn’s disease-like features were noted in 22 patients, three patients had ulcerative colitis-like features. The diagnosis of hypogammaglobulinemia preceded IBD-like features diagnosis in 20 patients (mean of 7.7 years prior, range 0.3–35 years), and followed IBD-like features appearance in 5 cases (mean of one year after, 0.4- 9.1 years). Hypogammaglobinemia etiologies were common variable immunodeficiency (72%), Agammaglobulinemia (8%), selective IgA-deficiency (8%), Goods syndrome (8%), IgG subclass deficiency with IgA deficiency (4%). In addition to antibiotics and intravenous immunoglobulin (IVIG) as a treatment for hypogammaglobinemia, fifteen patients received IBD treatment during the follow-up period, of whom two were on 5-aminosalicylic acid, five on corticosteroids, three on immunomodulatory, four on anti-tumor necrosis factor, and one on vedolizumab. By the end of the follow-up [35.5 months (Interquartile range 18–75)], 20 of 25 (80%) patients were in clinical remission. Conclusion This case series illustrates a strong male and CD-like features predilection. The diagnosis of IBD-like features mainly occurs after that of hypogammaglobulinemia, the majority of cases successfully recovered after appropriate treatment.

scholarly journals Ocularis syphilis

2020 ◽  
Vol 161 (45) ◽  
pp. 1927-1935
Author(s):  
Zsuzsanna Géhl ◽  
Béla Tamási ◽  
András Bánvölgyi ◽  
Zoltán Zsolt Nagy
Keyword(s):  
Visual Acuity ◽  
Case Series ◽  
Visual Outcome ◽  
Posterior Uveitis ◽  
Syphilis Infection ◽  
Appropriate Treatment ◽  
The Mean ◽  
The Right ◽  
Clinical Records

Összefoglaló. Bevezetés és célkitűzés: A syphiliseredetű uveitis szemészeti és általános tüneteinek ismertetése, a prognózis elemzése olyan esetek kapcsán, amelyekben az uveitis kivizsgálása során derült fény a syphilisre. Módszer: 2011 és 2019 között 14 uveitises beteg vizsgálata során derült fény syphilisre (13 férfi, 1 nő), a tünetek 25 szemen jelentkeztek. A betegek adatait retrospektíven elemeztük. Eredmények: A betegek átlagéletkora 46 év volt (23–72 év). A szemészeti diagnózis felállítását követően 2 beteg nem jelent meg a további bőrgyógyászati és szemészeti vizsgálaton, 1 beteget más intézetben kezeltek. A gondozott 11 betegnél a gyulladásban érintett szemeken az első alkalommal észlelt átlagolt látóélesség a jobb szemen 0,71 (0,001–1,0), a bal szemen 0,53 (0,04–1,0) volt. A követési idő átlagosan 22 hónap (1–72) volt. A követési idő végén az átlagolt látóélesség a jobb szemen 0,9 (0,15–1,0), a bal szemen 0,82 (0,08–1,0) volt. A leggyakoribb szemészeti manifesztáció a hátsó uveitis volt, amely papillitis, chorioretinitis vagy kombinált formákban volt megfigyelhető, összesen 20 szemen. A neurosyphilis-protokoll alapján alkalmazott penicillinkezelés után a gyulladásos tünetek minden betegnél megszűntek, a követési idő végén a betegek többségénél a látóélesség teljes volt. A gyengébb látóélesség hátterében látóideg-atrophia, illetve a macula károsodása állt. Következtetés: Eseteinkben a betegek főként középkorú férfiak voltak. Bár jellemző volt a hátsószegmentum-érintettség, megfelelő kezelés mellett a prognózis jónak volt mondható. Orv Hetil. 2020; 161(45): 1927–1935. Summary. Introduction and objective: To describe the ocular and general characteristics and to assess prognosis of patients with uveitis, whose syphilis infection was revealed during uveitis workup. Method: Between 2011 and 2019, 14 uveitis patients were diagnosed with syphilis (13 males, 1 female) with symptoms in 25 eyes. Patients’ clinical records were analyzed retrospectively. Results: The mean age of patients was 46 years (range 23–72 years). 2 patients did not show up for further dermatological and ophthalmic examinations, and 1 patient was treated at another institute. In the 11 patients we treated, the mean visual acuity observed for the first time in the eyes affected by inflammation was 0.71 (0.001–1.0) in the right eye and 0.53 (0.04–1.0) in the left eye. The mean follow-up was 22 months (1–72). At the end of the follow-up period, the mean visual acuity was 0.9 (0.15–1.0) in the right eye and 0.82 (0.08–1.0) in the left eye. The most common ocular manifestation was posterior uveitis (papillitis, chorioretinitis, or in combined forms) in a total of 20 eyes. After receiving penicillin therapy according the neurosyphilis protocol, inflammatory symptoms resolved in all patients, and at the end of the follow-up, the majority of patients had complete visual recovery. Lower visual acuity was due to optic nerve atrophy and macular damage. Conclusion: In our case series, the patients were predominantly middle-aged men. Although most patients showed posterior segment involvement, with appropriate treatment the visual outcome was good. Orv Hetil. 2020; 161(45): 1927–1935.

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