Gitelman Syndrome in Pregnancy: A Clinical Challenge

2021 ◽  
Author(s):  
Seval Yilmaz Ergani ◽  
Gokcen Orgul ◽  
Harun Egemen Tolunay ◽  
Mustafa Arici ◽  
Aykan Yucel ◽  
...  
Keyword(s):  
Potassium Citrate ◽  
Gitelman Syndrome ◽  
Third Trimester ◽  
Case Presentation ◽  
Early Admission ◽  
Uterine Surgery ◽  
Elective Cesarean ◽  
Gestational Week ◽  
Routine Antenatal Care

Abstract Purpose Disease progress may be affected by pregnancy-related changes, and underlying conditions may also affekt pregnancy outcomes in women with Gitelman syndrome (GS). Case presentation A 35-year-old woman with GS (gravida 2 para 1) was referred to our hospital to start routine antenatal care follow-up at 6 weeks of gestation. At the age of 31, she had been diagnosed with GS after her first uneventful pregnancy. Upon early admission, her serum Mg+level was 0.51 mmol/L and her serum K+level 2.7 mmol/L with normal kidney function tests. She was already taking oral combined potassium citrate and potassium bicarbonate supplementation once a day before pregnancy. At the eighth gestational week, the medication was changed to an oral potassium color sachet of 1.5 gram per day until labor because of the insufficient dosage to maintain optimum potassium levels. She was also taking 365 milligrams of oral magnesium oxide twice a day before and during pregnancy. In the third trimester of the pregnancy, her serum Mg+level was 0.48 mmol/L and serum K+level 2.8 mmol/L. Because of the previous uterine surgery history, she underwent an elective cesarean operation at 39 weeks’ gestation under spinal anesthesia and delivered a healthy 3090-gram female infant. Conclusion Increased need for potassium and magnesium supplementation should be the critical considerations when managing pregnant patients with GS.

scholarly journals Giant Olfactory Groove Meningioma in Pregnancy

2020 ◽  
Vol 2 (2) ◽  
Author(s):  
Tommy Rizky Hutagalung ◽  
Faisal ◽  
Ridha Dharmajaya
Keyword(s):  
Rare Event ◽  
Third Trimester ◽  
Case Presentation ◽  
Olfactory Groove ◽  
The Past ◽  
The Status ◽  
Gestational Week ◽  
Olfactory Groove Meningioma ◽  
Slow Growing

Introduction: Meningioma is slow growing neoplasm cells that comes from arachnoid cap most common benign intracranial tumours. Olfactory groove meningiomas (OGM) account for 8–13% of all intracranial meningiomas. Intracranial tumors on pregnancy is a rare event, with few reports. Case Presentation: A 36-year-old- female (G11P9A1) 34 gestational week presented to the Adam Malik General Hospital with smelling disturbances for 6 months and lossing smelling sense in the past 1 month. Slowly progression of vision disturbances for 3 months without improvement in using glasses, progressive loss of vision in both eyes for the past 1 month. CT scan and MRI revealead a solid mass lesion, with 6.3 x 4.2 x 3.1 cm. It was a supratentorial in frontal region, olfactory groove mass. The Craniotomy tumor removal was performed in this patient. Discussion: Meningiomas are mostly silent brain tumors with slow growth, however may get detected and mostly become symptomatic during pregnancy and luteal phase of menstrual cycle due to increase in size secondary to either water retention, enhanced vascularity or progesterones are possible etiologies. The majority of meningiomas express progesterone reseptor, which can be detected also by immunohistochemistry. In fact, tumour growth when progesterone concentrations are higher, shows the role of sex hormones in the mechanism. Regardless of the status of pregnancy, symptomatic and large meningiomas require surgical resection. Conclusion: Changes of plasma concentration hormones during pregnancy and their effect on meningioma growth in the second and third trimester are crucial and critical. The management of brain lesions during pregnancy required professional collaboration between neurosurgeons, obstetricians and anesthesiologists.

Gitelman syndrome DD thiazide diuretics abuse

Open Medicine ◽  
2014 ◽  
Vol 9 (3) ◽  
pp. 495-499
Author(s):  
Karsten Keller ◽  
Johannes Beule ◽  
Wolfgang Dippold
Keyword(s):  
Genetic Analysis ◽  
Obese Woman ◽  
Gitelman Syndrome ◽  
Thiazide Diuretics ◽  
Case Presentation ◽  
Slc12a3 Gene ◽  
Causal Therapy ◽  
Normal Urine ◽  
Urine Concentrating Ability

AbstractIntroduction. Gitelman syndrome (GS) is a rare inherited disorder. Mutations in SLC12A3 gene that encode tubular Na+Cl-cotransporter (NCCT) cause hypokalemic metabolic alkalosis, salt loss, hypomagnesaemia and hypocalciuria. The symptoms include weakness, vertigo, hypotension, tetany, paresthesia and nausea. Diagnostic criteria are a normal urine concentrating ability, normal glomerular filtration rate (GFR), hypomagnesaemia (<0,65mmol/l), hypokalemia (<3,6mmol/l) and hypocalciuria (<0,1mmol/mmol creatinine). Previously, the diagnosis was made by exclusion. Today, genetic analysis can ensure diagnosis. Thiazide diuretics (TD) abuse with similar abnormalities can make the differential diagnosis difficult. Causal therapy of GS does not exist. The substitution of potassium and magnesium are therapeutic strategies. Case presentation. A 41-year-old obese woman presented at the emergency department with recurrent episodes of hypokalemia with concomitant weakness, muscle cramps, polyuria and collapse. The results of laboratory testing of blood and urine led to the suspected diagnosis of GS. In the follow-up examinations, the results were inconsistent. Therefore, a transient thiazide diuretics abuse was assumed. Discussion. This case demonstrates the difficulties in making the diagnosis of GS on the basis of only clinical and laboratory tests, without the use of genetic analysis. The differentiation between GS and thiazide diuretic abuse is especially difficult.

scholarly journals Méhen belül felszívódó magzati mellékvesevérzés ultrahang-diagnózisa

2019 ◽  
Vol 160 (52) ◽  
pp. 2073-2078
Author(s):  
Gábor Szabó ◽  
András Szarka ◽  
Gábor Rudas ◽  
János Rigó Jr.
Keyword(s):  
Adrenal Gland ◽  
Good Condition ◽  
Elective Cesarean Section ◽  
Ultrasound Diagnostics ◽  
Short Period ◽  
Elective Cesarean ◽  
Gestational Week ◽  
New Onset

Abstract: The confirmed incidence of new-onset adrenal gland hemorrhage has increased with the development of ultrasound diagnostics in recent years. Intrauterine developed cases are rarely recognized. Differential diagnosis of cystic lesions of the adrenal gland is often only possible after birth. In our case study, we report the ultrasonographic diagnosis and follow-up of a cystic lesion measuring 4 × 3 cm in the left fetal epigastrium in the 33rd gestational week. During pregnancy, multimodal imaging methods (both ultrasound and magnetic resonance) have confirmed the diagnosis of hemorrhage in the left adrenal gland. In the 37th gestational week, the hematoma completely resolved. At term, a 4150 gram neonate was delivered in good condition by an elective cesarean section. Postnatal endocrinological and follow-up ultrasound examinations did not find any disorder. This study is the first published case report in the literature that proves that fetal adrenal hemorrhage can intrauterin spontaneously absorb within a short period of time. Our case draws attention to the fact that adrenal bleeding may occur in the newborn regardless of birth trauma. It can also be assumed that the incidence of adrenal bleeding during pregnancy is higher than that reported in neonatal cases. Orv Hetil. 2019; 160(52): 2073–2078.

scholarly journals Omphalocele Secondary to Spontaneous Rupture of Allantoic Cyst in the Third Trimester of Pregnancy

2021 ◽  
Vol 2021 ◽  
pp. 1-4
Author(s):  
Giuliana Orlandi ◽  
Paolo Toscano ◽  
Lavinia Di Meglio ◽  
Letizia Di Meglio ◽  
Aniello Di Meglio
Keyword(s):  
Spontaneous Rupture ◽  
Pediatric Surgery ◽  
First Trimester ◽  
Causal Link ◽  
Third Trimester ◽  
Case Presentation ◽  
The Third ◽  
Urgent Surgery ◽  
First Case

Objective. We report the first case in which the onset of omphalocele was after the spontaneous rupture of an allantoic cyst. We hypothesize a causal link between the spontaneous rupture of the cyst and the herniation of the viscera. Case Presentation. A 36-year-old woman was diagnosed with an allantoic cyst during the first trimester. The allantoic cyst underwent spontaneous rupture during the 32nd week of gestation, and an omphalocele developed secondary to the cyst’s rupture. Two days after birth, the peritoneum covering intestinal loops broke spontaneously and the newborn underwent successful urgent surgery. Conclusions. This case may suggest that the relative benignity of the allantoid cysts may recommend a close ultrasound follow-up in order to identify the onset of any complications, as a late third trimester onset of omphalocele. Prenatal diagnosis of such complications may allow multidisciplinary management of the pregnancy with planned cesarean section, prenatal pediatric surgery consultation, and neonatal surgery.

scholarly journals Spontaneous haemorrhage of an adrenal angiomyolipoma: case report

2019 ◽  
Vol 25 (1) ◽  
Author(s):  
Danielle Whiting ◽  
Ian Rudd ◽  
Amit Goel ◽  
Seshadri Sriprasad ◽  
Sanjeev Madaan
Keyword(s):  
Case Reports ◽  
Case Presentation ◽  
Open Adrenalectomy ◽  
Large Size ◽  
History Of ◽  
Loin Pain ◽  
Benign Tumours ◽  
Spontaneous Haemorrhage ◽  
Mesenchymal Tumours

Abstract Background Angiomyolipomas are rare mesenchymal tumours arising from the perivascular epithelioid cells consisting of variable amounts of adipose, thick-walled blood vessels and smooth muscle cells. These benign tumours commonly occur in the kidney with only a few case reports of adrenal angiomyolipomas which have the potential to reach a large size and haemorrhage. Case presentation A 45-year-old lady presented with a 3-week history of right loin pain, nausea and vomiting. A CT scan revealed a right adrenal angiomyolipoma measuring 6.3 × 6.8 cm with associated haemorrhage. The lesion was successfully treated with right open adrenalectomy, and histology confirmed the diagnosis of adrenal angiomyolipoma. The patient remained well with no evidence of recurrence at the 36-month follow-up. Conclusion Adrenal angiomyolipomas are rare benign tumours that have the ability to reach a large size and potential to bleed. Here, we report the second case of spontaneous haemorrhage in an adrenal angiomyolipoma, which was successfully treated with open adrenalectomy.

Fourth Ventricle Outlet Obstruction and Diverticular Enlargement of Luschka Foramina in a Child with Down Syndrome

2020 ◽  
pp. 1-4
Author(s):  
Valentina Orlando ◽  
Pietro Spennato ◽  
Maria De Liso ◽  
Vincenzo Trischitta ◽  
Alessia Imperato ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Fourth Ventricle ◽  
Endoscopic Third Ventriculostomy ◽  
Obstructive Hydrocephalus ◽  
Radiological Finding ◽  
Outlet Obstruction ◽  
Third Ventriculostomy ◽  
Viable Option ◽  
Case Presentation

<b><i>Introduction:</i></b> Hydrocephalus is not usually part of Down syndrome (DS). Fourth ventricle outlet obstruction is a rare cause of obstructive hydrocephalus, difficult to diagnose, because tetraventricular dilatation may suggest a communicant/nonobstructive hydrocephalus. <b><i>Case Presentation:</i></b> We describe the case of a 6-year-old boy with obstructive tetraventricular hydrocephalus, caused by Luschka and Magen­die foramina obstruction and diverticular enlargement of Luschka foramina (the so-called fourth ventricle outlet obstruction) associated with DS. He was treated with endoscopic third ventriculostomy (ETV) without complications, and a follow-up MRI revealed reduction of the ventricles, disappearance of the diverticula, and patency of the ventriculostomy. <b><i>Conclusion:</i></b> Diverticular enlargement of Luschka foramina is an important radiological finding for obstructive tetraventricular hydrocephalus. ETV is a viable option in tetraventricular obstructive hydrocephalus in DS.

scholarly journals Bladder hamartoma in Peutz-Jeghers syndrome: a rare case report

2021 ◽  
Vol 27 (1) ◽  
Author(s):  
Jai Kumar ◽  
Mohammad Irfaan Albeerdy ◽  
Nadeem Ahmed Shaikh ◽  
Abdul Hafeez Qureshi
Keyword(s):  
Urinary Bladder ◽  
Filling Defect ◽  
Hamartomatous Polyps ◽  
Case Presentation ◽  
Rare Case Report ◽  
Mucocutaneous Pigmentation ◽  
Dominant Disease ◽  
Peutz Jeghers Syndrome ◽  
Comprehensive Compilation

Abstract Background Peutz-Jeghers syndrome is an autosomal dominant disease characterized by mucocutaneous pigmentation and hamartomatous polyps in the gastrointestinal tract (GIT). There have also been cases of extra GIT polyps such as the renal pelvis, urinary bladder, lungs and nares. Bladder hamartoma is an extremely rare finding, with only 12 cases described in the literature up to now. The rarity of the condition necessitates a comprehensive compilation of managements up to now so as to provide a better tool for the treatment of such conditions in the future. Case presentation A twenty-year-old male, known to have Peutz-Jeghers syndrome, presented to us complaining of obstructive urinary symptoms. A urethrogram done showed a filling defect at the base of the urinary bladder. The mass was resected transurethrally, and histopathology revealed a hamartoma of the bladder. The patient has since remained tumor-free on follow-up. Conclusions Transurethral resection of the bladder mass proved to be an effective therapy in this patient with no recurrence on the patient’s follow-up till now. There is still, however, a dearth of knowledge regarding the management of bladder hamartomas owing to the extreme rarity of the case.

scholarly journals Duodenal adenocarcinoma with skin metastasis as initial manifestation: A case report

2021 ◽  
Vol 16 (1) ◽  
pp. 395-398
Author(s):  
Yixiao Fu ◽  
Cuiping Zheng ◽  
Jian Huang ◽  
Shenghao Wu ◽  
Yanyan Dai
Keyword(s):  
Oral Treatment ◽  
Duodenal Biopsy ◽  
Skin Metastasis ◽  
Metastatic Adenocarcinoma ◽  
Duodenal Adenocarcinoma ◽  
Initial Manifestation ◽  
Case Presentation ◽  
Replacement Treatment ◽  
Lost To Follow Up

Abstract Background Duodenal adenocarcinoma (DA) with skin metastasis as initial manifestation is clinically rare. In this study, we report a rare case of skin metastasis of DA. Case presentation An 84-year-old male patient developed multiple ecchymoses on the trunk and lower extremities. Physical examination showed that the ecchymosis was dark red and had a hard texture, but showed no bulging, rupture, or tenderness. The skin biopsy implied skin metastatic adenocarcinoma. After an endoscopic duodenal biopsy, the patient was finally diagnosed with DA with skin metastasis. The patient received two courses of oral treatment of Tegafur (40 mg, bid d1–d14). However, the patient stopped taking Tegafur because of its poor effect and received Chinese medicine as a replacement treatment. Unfortunately, he was lost to follow-up. Conclusions Early diagnosis of DA metastasis is of significant importance as prognosis of these patients is poor.

scholarly journals Perforation of the atrial wall and aortic sinus after closure of an atrial septal defect with an Atriasept occluder: a case report

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Zai-Qiang Zhang ◽  
Jia-Wang Ding
Keyword(s):  
Case Report ◽  
Atrial Septal Defect ◽  
Septal Defect ◽  
Emergency Operation ◽  
Atrial Wall ◽  
Aortic Sinus ◽  
Case Presentation ◽  
Lethal Complications ◽  
Life Threatening

Abstract Background While the perforation of the atrial wall and aortic sinus after closure of an atrial septal defect (ASD) is rare, it’s life-threatening, with rapid progress and high mortality. To the best of our knowledge, 21 similar cases have been reported since 1976. Case presentation We report a 16-year-old male whose atrial septal defect (ASD) was closed using a 12-mm Amplatzer septal occluder (ASO). Atrial wall and aortic sinus perforation occurred 3 months after transcatheter closure, and the patient was discharged after emergency operation. He was discharged on the 12th postoperative day in good overall condition. Conclusions With this case report, we want to illustrate that although percutaneous closure of ASD is regarded as a routine procedure, we should not forget the potentially lethal complications, especially cardiac erosion. Therefore, we should carefully evaluate the risk of erosion before surgery, and careful lifelong follow-up is needed.

scholarly journals First reported case of penile prosthesis infection from brucellosis: case report

2020 ◽  
Vol 26 (1) ◽  
Author(s):  
Nabil Nabil Moohialdin ◽  
Ahmad Shamsodini ◽  
Steven K. Wilson ◽  
Osama Abdeljaleel ◽  
Ibrahim Alnadhari ◽  
...  
Keyword(s):  
Case Report ◽  
Broad Spectrum ◽  
Surgical Intervention ◽  
Penile Prosthesis ◽  
Raw Milk ◽  
Prosthesis Infection ◽  
Case Presentation ◽  
First Case ◽  
Milk Ingestion

Abstract Background Infection after the penile prosthesis can be devastating to both the patient and surgeon with various complications and consequences. After introduction of antibiotic-coated implants, the rate of infection has dramatically decreased, but still we see uncommon organisms causing infection. We present a first case report of penile prosthesis infection by brucellosis due to raw milk ingestion. To our knowledge, this is the first reported case of brucellosis penile prosthesis infection. Case presentation We present a first case report of penile prosthesis infection by brucellosis due to raw milk ingestion. A 75-year-old, diabetic male patient presented with penile prosthesis infection 5 months post-penile exchange surgery due to mechanical malfunctioning of 2-piece penile prosthesis which was inserted 11 years ago. The initial treatment with broad spectrum antibiotics did not subside the infection. After diagnosis of brucellosis, the antibiotic was changed to anti-brucellosis (Rifampicin + Tetracycline). The patient improved dramatically and was discharged home with smooth follow-up course. Conclusion Brucellosis can cause infection of penile prosthesis and can be treated with anti-brucellosis antibiotics without necessitating surgical intervention and removal of prosthesis.

Sign in / Sign up

Export Citation Format

Share Document