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Cureus Sep 2019Laurence-Moon-Bardet-Biedl syndrome (LMBBS), a rare autosomal recessive defect, mostly occurs in children born from consanguineous marriages. The major features of this...
Laurence-Moon-Bardet-Biedl syndrome (LMBBS), a rare autosomal recessive defect, mostly occurs in children born from consanguineous marriages. The major features of this syndrome are cone-rod dystrophy, polydactyly, obesity, learning disabilities, hypogonadism in males, renal anomalies, nystagmus, speech disorders, developmental delay, polyuria/polydipsia, ataxia, and poor coordination/clumsiness. In this report, we present a case of a 19-year-old man with pain and swelling of the left ankle and knee joints because of which he could not walk, with an onset of loose stools since a week. He presented with multiple non-itchy hyperpigmented macules on his face and back, polydactyly in his left foot, central obesity, proteinuria, macrocytic anemia, low intelligence quotient, reduced power in the left lower limb, reduced plantar reflexes, nystagmus, pigmented black lesions in the temporal retina on fundoscopy, a micropenis, absent pubic and axillary hair, and a small scrotum containing testes. The patient was diagnosed with LMBBS.
PubMed: 31696011
DOI: 10.7759/cureus.5618 -
Cureus Aug 2023Hyponatremia is the most prevalent electrolyte imbalance encountered among hospitalized patients, athletes, the elderly, patients with chronic ailments, postoperative... (Review)
Review
Hyponatremia is the most prevalent electrolyte imbalance encountered among hospitalized patients, athletes, the elderly, patients with chronic ailments, postoperative patients, and a few asymptomatic individuals. Clinical manifestations of hyponatremia can be diverse, with characteristic neurological symptoms. Depending on in-depth medical history, physical examination (including volume status assessment), laboratory investigation, and drug history, patients can be classified broadly as undergoing hypervolemic, euvolemic, or hypovolemic hyponatremia. However, patients with hypervolemic hyponatremia often present with distinctive signs such as edema or ascites, and the clinical presentation of hypovolemic and euvolemic hyponatremia poses significant challenges for clinicians. The convolution in clinical manifestations of patients is due to the varied etiologies of euvolemic hyponatremia, such as syndrome of inappropriate antidiuretic hormone secretion (SIADH), adrenocortical insufficiency, hypothyroidism, psychogenic polydipsia, different classes of drugs (chemotherapeutics, antipsychotics, antidepressants), endurance exercise events, and reset osmostat syndrome (ROS). The management of hyponatremia depends on the rate of hyponatremia onset, duration, severity of symptoms, levels of serum sodium, and underlying comorbidities. Over the last decade, the clinical understanding of hyponatremia has been scattered due to the introduction of innovative laboratory markers and new drugs. This article will be a conspectus of all the recent advancements in the field of diagnosis, investigations, management, and associations of hyponatremia, along with traditional clinical practices. Subsequently, a holistic overview has been laid out for the clinicians to better understand and identify knowledge deficiencies on this topic.
PubMed: 37700952
DOI: 10.7759/cureus.43390 -
Cureus Mar 2023A 62-year-old male with a history of chronic obstructive pulmonary disease(COPD), schizoaffective disorder treated with Zoloft, type 2 diabetes mellitus, and tobacco use...
A 62-year-old male with a history of chronic obstructive pulmonary disease(COPD), schizoaffective disorder treated with Zoloft, type 2 diabetes mellitus, and tobacco use presented with an acute on chronic hyponatremia of 120 mEq/L. He presented with only a mild headache and endorsed recently increasing his free water intake due to a cough. Labs and physical exam findings suggested a true, euvolemic hyponatremia. Polydipsia and Zoloft-induced syndrome of inappropriate antidiuretic hormone (SIADH) were determined to be likely contributors to his hyponatremia. However, given his tobacco use, further workup was done to rule out malignancy causing hyponatremia. Chest CT did ultimately suggest malignancy and further workup was recommended. With the hyponatremia treated, the patient was discharged with recommended outpatient workup. This case serves as a reminder to consider that hyponatremia may be multifactorial and even if there is a likely cause identified, malignancy should be ruled out in patients with risk factors.
PubMed: 37009343
DOI: 10.7759/cureus.35657 -
Actas Espanolas de Psiquiatria Nov 2021Psychogenic polydipsia, primary polydipsia or potomania is a disorder of multifactorial etiology which is associated with substantial morbidity and mortality. It occurs...
Psychogenic polydipsia, primary polydipsia or potomania is a disorder of multifactorial etiology which is associated with substantial morbidity and mortality. It occurs frequently in patients with psychiatric diseases, particularly those with schizophrenia, however, it is not exclusive, it has been reported in a lower proportion in patients with anxiety disorders and mood disorders. Although, is still poorly understood and therefore underdiagnosed condition.
Topics: Bipolar Disorder; Humans; Hyponatremia; Mood Disorders; Polydipsia; Polydipsia, Psychogenic
PubMed: 34734645
DOI: No ID Found -
Beijing Da Xue Xue Bao. Yi Xue Ban =... Apr 2022To summarize and analyze the clinical characteristics of children with basal ganglia germinoma and to improve the level of early clinical diagnosis.
OBJECTIVE
To summarize and analyze the clinical characteristics of children with basal ganglia germinoma and to improve the level of early clinical diagnosis.
METHODS
The clinical data of children diagnosed with basal ganglia germinoma admitted to the Pediatric Surgery Ward of Peking University First Hospital from January 2013 to December 2020 were retrospectively analyzed, and descriptive statistics were used to analyze the clinical characteristics of children with basal ganglia germinoma.
RESULTS
A total of 30 patients were included in the study, 28 were male, 2 were female, the mean age at onset was (9.7±2.2) years, the median disease duration was 7 months, 27 had unilateral disease, and 3 had bilateral disease. The clinical manifestations were decreased limb muscle strength, cognitive function disorders, polydipsia, precocious puberty, intracranial hypertension, dysphonia and swallowing dysfunction. The serum and cerebrospinal fluid tumor marker alpha-fetoprotein (AFP) were normal in the 30 patients, and the serum and cerebrospinal fluid tumor marker β-human chorionic gonadotropin (β-HCG) were normal in 8 patients.The serum β-HCG was normal in 11 patients but the cerebrospinal fluid β-HCG was slightly elevated, and the serum and cerebrospinal fluid β-HCG were slightly elevated in 11 patients. A total of 33 lesions with irregular shapes were found by imaging examination, including 15 (45.5%) patchy lesions, 10 (30.3%) patchy lesions, and 8 (24.2%) round-like high-density lesions. Tumors showed obvious high-density shadows on computed tomography (CT) scan. Magnetic resonance imaging (MRI) scan of the tumors showed low or isointensity on T1WI and isointensity on T2WI, accompanied by mild peritumoral edema, hemispheric atrophy, cerebral peduncle atrophy, calcification, cystic degeneration, ventricular dilatation and wallerian degeneration. On contrast-enhanced scans, the tumor showed no enhancement or heterogeneous enhancement.
CONCLUSION
The main age of onset of germ cell tumors in the basal ganglia in children is about 10 years old, and males are absolutely dominant. The clinical features and imaging manifestations have certain characteristics. With both combined, the early diagnosis of germ cell tumors in the basal ganglia can be improved.
Topics: Atrophy; Basal Ganglia; Biomarkers, Tumor; Brain Neoplasms; Child; Chorionic Gonadotropin, beta Subunit, Human; Female; Germinoma; Humans; Magnetic Resonance Imaging; Male; Neoplasms, Germ Cell and Embryonal; Retrospective Studies
PubMed: 35435183
DOI: 10.19723/j.issn.1671-167X.2022.02.004 -
Clinical Case Reports Jul 2021associated osteomyelitis, while described in humans and a cat, has to our knowledge not been described in dogs. Infection with spp. should be considered as a potential...
associated osteomyelitis, while described in humans and a cat, has to our knowledge not been described in dogs. Infection with spp. should be considered as a potential bacterial cause of osteomyelitis in dogs.
PubMed: 34306698
DOI: 10.1002/ccr3.4512 -
Cureus Sep 2023In a patient with persistent hypokalemia, it is important to consider Gitelman syndrome, a rare, salt-wasting tubulopathy inherited in an autosomal recessive pattern....
In a patient with persistent hypokalemia, it is important to consider Gitelman syndrome, a rare, salt-wasting tubulopathy inherited in an autosomal recessive pattern. Gitelman syndrome leads to electrolyte abnormalities like hypokalemia, hypomagnesemia, and metabolic alkalosis. Typical clinical features include muscle cramps, fatigue, polydipsia, and salt cravings. Our case involves a female patient in her early 40s who visited the endocrinology clinic with symptoms of polyuria, constipation, muscle weakness, and fatigue. Electrolyte abnormalities included hypokalemia, hypomagnesemia, hypochloremia, and hyperreninemia. Initial tests, such as renal function tests, renal ultrasound, and CT scan, yielded normal results. Differential diagnosis of Gitelman syndrome and Bartter syndrome was considered due to the mutual electrolyte abnormalities of hypokalemia and metabolic alkalosis. Bartter syndrome was ruled out in our patient due to the presence of hypomagnesemia, which indicates a different defective receptor. Ultimately, genetic testing would be necessary to confirm the diagnosis of Gitelman syndrome considering the characteristic electrolyte disturbances and classic clinical presentation of fatigue, weakness, and salt craving.
PubMed: 37795074
DOI: 10.7759/cureus.44590 -
Scientific Reports Nov 2022Development of the renal medulla continues after birth to form mature renal papilla and obtain urine-concentrating ability. Here, we found that a small GTPase, Rac1,...
Development of the renal medulla continues after birth to form mature renal papilla and obtain urine-concentrating ability. Here, we found that a small GTPase, Rac1, plays a critical role in the postnatal development of renal papilla. Mice with distal tubule-specific deletion of Rac1 reached adulthood but showed polydipsia and polyuria with an impaired ability to concentrate urine. The elongation of renal papilla that occurs in the first weeks after birth was impaired in the Rac1-deficient infants, resulting in shortening and damage of the renal papilla. Moreover, the osmoprotective signaling mediated by nuclear factor of activated T cells 5, which is a key molecule of osmotic response to osmotic stress in renal medulla, was significantly impaired in the kidneys of the Rac1-deficient infants. These results demonstrate that Rac1 plays an important role in the development of renal papilla in the postnatal period, and suggested a potential link between Rac1 and osmotic response.
Topics: Mice; Animals; Kidney Medulla; Kidney; Signal Transduction
PubMed: 36434091
DOI: 10.1038/s41598-022-24462-5 -
Cureus Feb 2022Common sites of lung cancer metastasis include the bone, brain, liver, and adrenal gland. Cancer metastasis to the pituitary gland or sellar region is a rare finding....
Common sites of lung cancer metastasis include the bone, brain, liver, and adrenal gland. Cancer metastasis to the pituitary gland or sellar region is a rare finding. Here, we present a case of pituitary gland metastasis from underlying lung cancer in a patient presenting with a predominance of pituitary symptoms over respiratory symptoms. A 48-year-old female was admitted to the hospital with progressive visual deficits, intractable headaches, constant nausea and vomiting, fatigue, polyuria, and polydipsia for about three months, all consistent with pituitary symptoms associated with secondary adrenal insufficiency, secondary hypothyroidism, and central diabetes insipidus. A brain MRI done two months earlier revealed a large mass in the pituitary gland and sella turcica area. Biochemical test abnormalities consistent with pituitary hormonal insufficiencies were noted, and subsequent imaging showed an enlarging pituitary mass and extensive metastases to the bones, brain, liver, adrenal gland, and lymph nodes. Bone biopsy was consistent with poorly differentiated adenocarcinoma of the lung as the primary site. The young age of this patient is uncommon compared to most patients with pituitary metastasis. Worsening pituitary symptoms with an enlarging pituitary mass and widespread metastases should alert consideration for pituitary metastasis and a search for a primary cancer site. Pituitary metastasis portrays a poor prognosis.
PubMed: 35371745
DOI: 10.7759/cureus.22608 -
Journal of Pediatric Genetics Sep 2022Primary distal renal tubular acidosis (dRTA) or Type 1 RTA in children is caused by a genetic defect (involved genes , , , , or ), which causes tubular transport...
Primary distal renal tubular acidosis (dRTA) or Type 1 RTA in children is caused by a genetic defect (involved genes , , , , or ), which causes tubular transport defects characterized by an inability to appropriately acidify urine with resultant persistent hyperchloremic metabolic acidosis. Retrospective analysis of 28 children (14 males) under the age of 14 years with dRTA seen from 2010 to 2019 was reviewed, and detailed clinic records were analyzed. The clinical features, investigations, and response to treatment were recorded. The median age of the children at presentation was 30 months (range: 9.25-72 months), and the median age at onset of symptoms was 2 months. All the children had growth failure, polyuria, and polydipsia at presentation. Mean serum potassium, pH, bicarbonate, and anion gap at presentation was 2.3 ± 0.5 mmol/L, 7.22 ± 0.09, 13.28 ± 4.37 mmol/L, and 9.3 ± 2.18, respectively. Mean serum potassium, pH, bicarbonate at follow-up was 3.88 ± 0.6 mmol/L, 7.35 ± 0.06, and 20.13 ± 4.17 mmol/L, respectively. The median z-score for the weight for age and height for age at initial presentation was -4.77 (-7.68 to -3.74) and -4.21 (-5.42 to -2.37) and at follow-up was -3.35 (-5.29 to -1.55) and -3.84 (-5.36 to -1.63), respectively. Twenty-two (78.6%) children had medullary nephrocalcinosis. Four children had sensorineural hearing loss. Seven children had genetic testing done, and six had pathogenic or likely pathogenic variants in and gene. Children with dRTA have a guarded prognosis and and mutations are the most common implicated genetic defect in Indian children with distal RTA.
PubMed: 35990030
DOI: 10.1055/s-0041-1724114