An 18-day-old male infant was admitted to the hospital due to recurrent hyperkalemia for more than 10 days. The neonate had milk refusal and dyspnea. The blood gas analysis revealed recurrent hyperkalemia, hyponatremia and metabolic acidosis. Adrenocortical hormone replacement therapy was ineffective. Additional tests showed a significant increase in aldosterone levels. Family whole exome sequencing revealed that the infant had compound heterozygous in the SCNNIA gene, inherited from both parents. The infant was diagnosed with neonatal systemic pseudohypoaldosteronism type I. The infant's electrolyte levels were stabilized through treatment with sodium polystyrene sulfonate and sodium supplement. The infant was discharged upon clinical recovery. This study provides a focused description of differential diagnosis of salt-losing syndrome in infants and introduces the multidisciplinary management of neonatal systemic pseudohypoaldosteronism type I.
Infant ; Infant, Newborn ; Humans ; Male ; Pseudohypoaldosteronism/genetics* ; Hyperkalemia/etiology* ; Hyponatremia/diagnosis* ; Diagnosis, Differential

Although foreign body ingestion is relatively common in children aged 6 months-3 years, small bowel obstruction rarely develops, and few cases require surgical interventions. We report a case of 12-month-old girl who presented to the emergency department with new-onset seizure after projectile bilious vomiting. The initial diagnosis was seizure caused by hyponatremia based on laboratory findings, plain abdominal radiograph, brain magnetic resonance imaging, and electroencephalography. Despite fluid resuscitation, clinical manifestations did not improve, and severe ileal obstruction was found on computed tomography. Emergency laparoscopy showed a foreign body (a water bead [superabsorbent polymer], 3 cm in diameter) that was subsequently removed by enterotomy. After the surgery, bilious vomiting continued, and gastrografin did not pass on fluoroscopy. The second laparoscopy showed a residual foreign body that was crushed and then removed by minimal enterotomy. She was discharged in good condition 5 days after the second surgery. This case suggests a particular danger of water beads as foreign bodies and the need for differential diagnosis of multiple foreign bodies in children with poor communication skills.
Brain ; Child ; Diagnosis ; Diagnosis, Differential ; Diatrizoate Meglumine ; Eating ; Electroencephalography ; Emergencies ; Emergency Service, Hospital ; Female ; Fluoroscopy ; Foreign Bodies ; Humans ; Hyponatremia ; Infant ; Intestinal Obstruction ; Laparoscopy ; Magnetic Resonance Imaging ; Resuscitation ; Seizures ; Vomiting ; Water

Dementia with Lewy bodies(DLB) is the second most common neurodegenerative disease. However, DLB might not be adequately diagnosed due to its variety of clinical symptoms. The authors present 65-year-old Mrs. A. who showed Parkinson's movement, cognitive decline, psychological symptoms, and autonomic dysfunction. According to the clinical features and biological markers in the recently revised DLB criteria, Mrs. A. was diagnosed with probable DLB. Differential diagnoses of delirium, Parkinson's dementia, and Alzheimer's dementia were discussed. Psychopharmacological treatments of antidepressants or anxiolytics caused intolerable side effects and showed little efficacy to Mrs. A. She experienced two episodes of hyponatremia during her one-year treatment. Recovery from neurological symptoms due to the first hyponatremia was time-consuming, and in the second, it was associated with changes in the level of consciousness despite relatively mild hyponatremia. A fall that occurred in the latter part of treatment triggered remarkable deterioration of DLB symptoms and daily life function. Prevention of falls is important for maintaining the quality of life of patients with DLB.
Accidental Falls ; Aged ; alpha-Synuclein ; Anti-Anxiety Agents ; Antidepressive Agents ; Biomarkers ; Consciousness ; Delirium ; Dementia ; Diagnosis ; Diagnosis, Differential ; Humans ; Hyponatremia ; Lewy Bodies ; Neurodegenerative Diseases ; Quality of Life

PURPOSE: Kawasaki disease (KD) is an immune-related multisystemic vasculitis that occurs in children, especially ensuing from a coronary artery abnormality. Sodium level is known to be related to vascular injury, which could affect the progress of KD. The purpose of this study was to determine the serum sodium levels that could predict the occurrence of cardiac and coronary artery events in KD. METHODS: We conducted a retrospective review of medical records for 104 patients with KD from January 2015 to December 2015. Patients with serum Na levels of <135 mEq/L at the time of initial diagnosis were assigned to the hyponatremia group. Laboratory findings and echocardiographic data were analyzed for various aspects. RESULTS: Among the 104 patients with KD, 91 were included in the study, of whom 48 (52.7%) had hyponatremia. The degree of fever, white blood cell count, percentage of neutrophils, percentage of lymphocytes, total bilirubin level, brain natriuretic peptide level, erythrocyte sedimentation rate, and C-reactive protein level were higher in the patients with hyponatremia. They also demonstrated a trend of larger coronary artery diameters based on Z scores. CONCLUSION: The severity of vascular inflammation in acute KD with hyponatremia might worsen the prognosis of coronary vasculature. Although no statistically significant correlation was found between the initial serum sodium levels and coronary arteriopathy in the patients with KD in this study, a long-term follow-up study with a larger number of enrolled patients should be designed in the future to elucidate the relationship between serum sodium level and coronary arteriopathy in patients with KD.
Bilirubin ; Blood Sedimentation ; C-Reactive Protein ; Child ; Coronary Vessels* ; Diagnosis ; Echocardiography ; Fever ; Follow-Up Studies ; Humans ; Hyponatremia ; Inflammation ; Leukocyte Count ; Lymphocytes ; Medical Records ; Mucocutaneous Lymph Node Syndrome* ; Natriuretic Peptide, Brain ; Neutrophils ; Prognosis ; Retrospective Studies ; Sodium* ; Vascular System Injuries ; Vasculitis

Pituitary stalk interruption syndrome (PSIS) involves the occurrence of a thin or absent pituitary stalk, hypoplasia of the adenohypophysis, and ectopic neurohypophysis. Diagnosis is confirmed using magnetic resonance imaging. Patients with PSIS have a variable degree of pituitary hormone deficiency and a wide spectrum of clinical manifestations. The clinical course of the disease in our patient is similar to that of a syndrome of inappropriate antidiuretic hormone secretion. This is thought to be caused by failure in the suppression of vasopressin secretion due to hypocortisolism. To the best of our knowledge, there is no case report of a patient with PSIS presenting with hyponatremia as the first symptom in Korean children. Herein, we report a patient with PSIS presenting severe recurrent hyponatremia as the first symptom, during adolescence and explain the pathophysiology of hyponatremia with secondary adrenal insufficiency.
Adolescent ; Adrenal Insufficiency* ; Child ; Delayed Diagnosis* ; Diagnosis ; Humans ; Hyponatremia* ; Hypopituitarism ; Inappropriate ADH Syndrome ; Magnetic Resonance Imaging ; Pituitary Gland* ; Pituitary Gland, Anterior ; Pituitary Gland, Posterior ; Vasopressins

Sheehan's syndrome is postpartum hypopituitarism due to the necrosis of the pituitary gland. Usually, it is the result of severe hypotension caused by massive hemorrhage during or after delivery. A 40-year-old woman who had been performed cesarean section delivery was complicated by hemorrhage due to uterine atony. After transfusion and hysterectomy, she is gradually recovering her general condition. On 16th day after operation, she visited emergency room in critical condition with nausea, vomiting, and general weakness and laboratory finding was hyponatremia. So, we medicated her with hydrocortisone and thyroxine. Sheehan's syndrome should be considered in the differential diagnosis of hyponatremia in the early postpartum period.
Adult ; Cesarean Section ; Diagnosis, Differential ; Emergency Service, Hospital ; Female ; Hemorrhage ; Humans ; Hydrocortisone ; Hypoglycemia ; Hyponatremia ; Hypopituitarism* ; Hypotension ; Hysterectomy ; Nausea ; Necrosis ; Pituitary Gland ; Postpartum Hemorrhage* ; Postpartum Period* ; Pregnancy ; Thyroxine ; Uterine Inertia ; Vomiting

Syndrome of inappropriate antidiuretic hormone secretion (SIADH) has various causes including central nervous system disorders, pulmonary and endocrine diseases, paraneoplastic syndromes, and use of certain drugs. SIADH induced by chemotherapy with irinotecan-cisplatin is not a common complication. Here, we review a case of SIADH after treatment with irinotecan-cisplatin. A 45-year-old woman received adjuvant chemotherapy (paclitaxel-carboplatin) for ovarian clear cell carcinoma, but the cancer recurred within 9 months of chemotherapy. Subsequently, a second line of combination chemotherapy containing irinotecan-cisplatin was initiated. However, 5 days after chemotherapy administration, her general condition began to deteriorate; her hematological tests revealed hyponatremia. Therefore, it is imperative to consider the possibility of SIADH in patients being treated with irinotecan-cisplatin–based chemotherapy. Proper monitoring of serum sodium levels and assessment of clinical symptoms should be performed in such patients for early diagnosis and prompt management.
Central Nervous System Diseases ; Chemotherapy, Adjuvant ; Cisplatin ; Drug Therapy ; Drug Therapy, Combination ; Early Diagnosis ; Endocrine System Diseases ; Female ; Hematologic Tests ; Humans ; Hyponatremia ; Inappropriate ADH Syndrome ; Middle Aged ; Paraneoplastic Syndromes ; Sodium

Central pontine myelinolysis (CPM) is a demyelinating disorder characterized by the loss of myelin in the center of the basis pons, and is mainly caused by the rapid correction of hyponatremia. We report the case of a young woman who presented with gait disturbance and alcohol withdrawal, and who was eventually diagnosed with CPM. Generally, the cause and pathogenesis of CPM in chronic alcoholics remain unclear. In this cases, the CPM may be unrelated to hyponatremia or its correction. However, it is possible that the osmotic pressure changes due to refeeding syndrome after alcohol withdrawal was the likely cause in this case. This case illustrates the need for avoiding hasty, and possibly incomplete diagnoses, and performing more intensive test procedures to ensure a correct diagnosis.
Alcoholics ; Demyelinating Diseases ; Diagnosis ; Female ; Gait ; Humans ; Hyponatremia ; Myelin Sheath ; Myelinolysis, Central Pontine* ; Osmotic Pressure ; Pons ; Refeeding Syndrome

In this narrative review we focus on acute symptomatic seizures occurring in subjects with electrolyte disturbances. Quite surprisingly, despite its clinical relevance, this issue has received very little attention in the scientific literature. Electrolyte abnormalities are commonly encountered in clinical daily practice, and their diagnosis relies on routine laboratory findings. Acute and severe electrolyte imbalances can manifest with seizures, which may be the sole presenting symptom. Seizures are more frequently observed in patients with sodium disorders (especially hyponatremia), hypocalcemia, and hypomagnesemia. They do not entail a diagnosis of epilepsy, but are classified as acute symptomatic seizures. EEG has little specificity in differentiating between various electrolyte disturbances. The prominent EEG feature is slowing of the normal background activity, although other EEG findings, including various epileptiform abnormalities may occur. An accurate and prompt diagnosis should be established for a successful management of seizures, as rapid identification and correction of the underlying electrolyte disturbance (rather than an antiepileptic treatment) are of crucial importance in the control of seizures and prevention of permanent brain damage.
Brain ; Diagnosis ; Electroencephalography ; Epilepsy ; Humans ; Hypernatremia ; Hypocalcemia ; Hyponatremia ; Seizures* ; Sensitivity and Specificity ; Sodium

Central pontine myelinolysis (CPM) is well-recognized osmotic demyelination syndrome that is related to various conditions such as rapid correction of hyponatremia and chronic alcoholism. Acute ataxia as a sole clinical sign in CPM is rare. We report a case of a 59-year-old man with dysarthria, intention tremor, and a significant gait ataxia starting after alcohol withdrawal, with radiological evidence of CPM. CPM should be included in the differential diagnosis of alcoholic patients who develop a sudden ataxia. Chronic alcohol abuse is one of the most commonly encountered predisposing factors. Alcohol withdrawal represents an additional vulnerability factor, being responsible for electrolyte imbalances which are not always demonstrable but are certainly involved in the development of CPM.
Alcoholics* ; Alcoholism ; Ataxia ; Causality ; Demyelinating Diseases ; Diagnosis, Differential ; Dysarthria ; Gait Ataxia ; Humans ; Hyponatremia ; Middle Aged ; Myelinolysis, Central Pontine* ; Tremor