2.Delayed diagnosis of 22q11.2 deletion syndrome in an adult Chinese lady.
Yat-Fung SHEA ; Chi-Ho LEE ; Harinder GILL ; Wing-Sun CHOW ; Yui-Ming LAM ; Ho-Ming LUK ; Stephen Tak-Sum LAM ; Leung-Wing CHU
Chinese Medical Journal 2012;125(16):2945-2947
We report a 32 year-old Chinese lady with history of tetralogy of Fallot, presented to us with chest pain due to hypocalcemia secondary to hypoparathyroidism. With her dysmorphic facial features and intellectual disability 22q11.2 deletion was suspected and confirmed by genetic study. Clinicians should consider the diagnosis of DiGeorge syndrome in adult patient with past medical history of congenital heart disease, facial dysmorphism, intellectual disability and primary hypoparathyroidism.
Adult
;
Delayed Diagnosis
;
DiGeorge Syndrome
;
diagnosis
;
genetics
;
Female
;
Humans
;
Hypocalcemia
;
diagnosis
;
genetics
3.Reliable Early Prediction for Different Types of Post-Thyroidectomy Hypocalcemia.
Joon Ho KIM ; Man Ki CHUNG ; Young Ik SON
Clinical and Experimental Otorhinolaryngology 2011;4(2):95-100
OBJECTIVES: High incidence of hypocalcemia after thyroidectomy is a major determinant in delay of discharge. Even though many studies have focused on the search for reliable early predictors of postoperative hypocalcemia, definitions of hypocalcemia are diverse; therefore, interpretation and application of previously reported findings may not be easy. We aimed to elucidate diverse patterns of post-thyroidectomy hypocalcemia and to provide reliable early predictors for these different types of hypocalcemia. METHODS: Retrospective chart review was performed and eligible 112 patients of thyroidectomy were categorized into four groups according to symptomatic and/or biochemical hypocalcemic criteria. A mismatch of occurrence and the timing of symptomatic or biochemical abnormalities were evaluated. Predictive values of commonly used biomarkers were compared in each group; levels of serum total calcium and ionized calcium, and intact parathyroid hormone (PTH). RESULTS: Among 62 hypocalcemic patients, 45 patients (72.5%) experienced both symptomatic and biochemical abnormalities during hospitalization. A mismatch on the timing of initial detection of symptomatic and biochemical hypocalcemia was observed in 21 patients (46.6%). Intact PTH level measured at 1 hour was a useful indicator in prediction of symptomatic hypocalcemia with 79.7-87.4% of diagnostic accuracy. Serum ionized calcium measured next morning after surgery was a reliable predictor of biochemical hypocalcemia with 77.9-94.8% of diagnostic accuracy. CONCLUSION: For the safety of patients, the possibility of both symptomatic and biochemical hypocalcemia should be considered together before deciding early discharge. Using intact PTH for symptomatic hypocalcemia and day-1 ionized serum calcium level for biochemical hypocalcemia will be helpful for the reliable prediction of heterogeneous nature of postoperative hypocalcemia.
Calcium
;
Early Diagnosis
;
Hospitalization
;
Humans
;
Hypocalcemia
;
Incidence
;
Parathyroid Hormone
;
Retrospective Studies
;
Thyroidectomy
;
Biomarkers
4.Non-epileptic Events of Paroxysmal Dystonic Choreoathetosis in Two Patients with Cerebral Calcification Due to Hypoparathyroidism.
Young Cheol CHOI ; Jae Moon KIM ; Seon Woo NAM ; Chin Sang CHUNG ; Ae Young LEE
Journal of the Korean Neurological Association 1995;13(4):1020-1025
There are diverse neurologic manifestations in patients with idiopathic or pseudohypoparathyroidism. Although one knows that hypocalcemia provokes symptoms of tetany, there is little knowldege about the paroxysmal dystonic choreoathetosis(PKC). We report two patients with paroxysmal symptoms resulting from hypocalcemia associated with idiopathic hypoparathyroidism and pseudohypoparathryoidism respectively, which were misdiagnosed and treated as epilepsy. They showed repetitive paroxysmal dystonic choreoathetotic movements that lasted for several seconds and typically induced by sudden voluntary movement. The ne-uroimaging showed bilateral symmetrical calcifications., mainly in the basal ganglia. In the clinical setting, these types of paroxysmal movements may be readily misdiagnosed as partial seizure or tetany. Therefore, not only the laboratory work up for hypocalcemia, but careful history taking and clinical observation is important in differential diagnosis of epilepsy and paroxysmal movements in the patient with hypocalcemia.
Basal Ganglia
;
Diagnosis, Differential
;
Epilepsy
;
Humans
;
Hypocalcemia
;
Hypoparathyroidism*
;
Neurologic Manifestations
;
Pseudohypoparathyroidism
;
Seizures
;
Tetany
5.Acute Symptomatic Seizures Caused by Electrolyte Disturbances.
Raffaele NARDONE ; Francesco BRIGO ; Eugen TRINKA
Journal of Clinical Neurology 2016;12(1):21-33
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
6.Clinical and laboratory characteristics of neonatal hypocalcemia.
Won Im CHO ; Hyeoh Won YU ; Hye Rim CHUNG ; Choong Ho SHIN ; Sei Won YANG ; Chang Won CHOI ; Beyong Il KIM
Annals of Pediatric Endocrinology & Metabolism 2015;20(2):86-91
PURPOSE: To describe the clinical characteristics of full-term neonates with hypocalcemia and to suggest factors associated with neonatal hypocalcemia METHODS: The medical records of full-term neonates with hypocalcemia were reviewed. Hypocalcemia was defined as an ionized calcium (iCa) concentration of <4 mg/dL. Parathyroid hormone (PTH) insufficiency was defined as a serum PTH level of <60 pg/mL or a serum phosphorus level higher than the serum calcium level in the presence of hypocalcemia. RESULTS: Fifty-three neonates were enrolled. The median age at diagnosis of hypocalcemia was 3 days. In all the neonates, formula feeding predominance was observed. Thirty-eight neonates (69.8%) were compatible with PTH insufficiency. The number of formula-fed neonates was significantly higher than that of breast-fed patients among neonates with PTH insufficiency (P=0.017). Intact PTH was negatively correlated with serum phosphorus levels. Twelve out of 14 neonates (85.7%) had 25-hydroxy vitamin D (25OHD) levels <20 ng/mL and 9 neonates (64.3%) had 25OHD levels <10 ng/mL. Twenty-one neonates had hypocalcemic tetany. The serum calcium and iCa concentrations of neonates with tetany were 4.2-8.3 mg/dL and 1.85-3.88 mg/dL, respectively. Three neonates showed symptomatic hypocalcemia with calcium levels over 7.5 mg/dL. Among the 16 neonates who underwent electroencephalography (EEG), 12 had abnormalities, which normalized after 1-2 months. CONCLUSION: Formula milk feeding, PTH insufficiency and low serum vitamin D concentration are associated with the development of neonatal hypocalcemia. Symptoms such as tetany and QT interval prolongation can develop in relatively mild hypocalcemia. Moreover, transient neonatal hypocalcemia can cause transient EEG abnormalities.
Calcium
;
Diagnosis
;
Electroencephalography
;
Humans
;
Hypocalcemia*
;
Infant, Newborn
;
Medical Records
;
Milk
;
Parathyroid Hormone
;
Phosphorus
;
Tetany
;
Vitamin D
8.Parathyroid Hormone as an Early Predictor of Post-thyroidectomy Hypocalcemia.
Joon Ho KIM ; Kyu Whan CHUNG ; Min Beom KIM ; Han Sin JEONG ; Chung Hwan BAEK ; Young Ik SON
Korean Journal of Otolaryngology - Head and Neck Surgery 2006;49(7):717-722
BACKGROUND AND OBJECTIVES: Parathyroid dysfunction following a total or completion thyroidectomy is not uncommon and it may be associated with significant patient morbidity. If there is a simple test with proven high predictability for identifying which patients will develop hypocalcemia, it would be very useful to determine the necessities of careful monitoring and calcium replacement. The purpose of this study is to determine which test would be the most valuable predictor of post-thyroidectomy hypocalcemia. SUBJECTS AND METHOD: Prospective series of 63 consecutive patients undergoing total or completion thyroidectomy were enrolled for this study. Calcium and ionized calcium were measured before and immediately after surgery, and daily during hospitalization. Parathyroid hormone (PTH) was measured immediately after surgery and early in the morning of the next day. Slopes of serum calcium, ionized calcium and PTH level change were calculated. Sensitivity, specificity and predictive values of each test for the symptomatic and biochemical hypocalcemia were compared. RESULTS: With the cut-off value of 10 pg/ml of spot PTH, sensitivity, specificity, positive and negative predictive values of hypocalcemia were 97%, 64%, 77% and 95% respectively. By combining the spot PTH and the slope of ionized calcium change, the above values became 94%, 82%, 87% and 92%. CONCLUSION: Immediate postoperative spot PTH level was the most valuable single test for predicting post-thyroidectomy hypocalcemia. Combination of a spot PTH and the slope of ionized calcium change resulted in improved specificity and positive predictability.
Calcium
;
Early Diagnosis
;
Hospitalization
;
Humans
;
Hypocalcemia*
;
Parathyroid Hormone*
;
Postoperative Complications
;
Prospective Studies
;
Sensitivity and Specificity
;
Thyroidectomy
9.Hypercalcium crisis and postoperative hungry bone syndrome caused by primary hyperparathyroidism: a case report.
Mengdi ZHANG ; Yifei ZENG ; Lei WANG ; Yian SUN ; Jingwei LI
Journal of Clinical Otorhinolaryngology Head and Neck Surgery 2023;37(5):389-392
To review the diagnosis and treatment of a case of hypercalcium crisis caused by primary hyperparathyroidism(PHPT) and prophylactic treatment of hungry bone syndrome. In a 32-year-old male with hypercalcemia, the main manifestations were loss of appetite, nausea, polyuria, polydipsia, fatigue, lethargy, etc. parathyroid hormone, serum calcium increased, thyroid function was normal, thyroid color ultrasound and MRI showed space-occupying behind the right thyroid, radionuclide examination showed abnormal imaging agent concentration in the right parathyroid area, there was a history of pathological fracture. Clinically diagnosed as hypercalcemia crisis secondary to PHPT.
Male
;
Humans
;
Adult
;
Hypercalcemia/diagnosis*
;
Hyperparathyroidism, Primary/surgery*
;
Parathyroid Hormone
;
Hypocalcemia/complications*
;
Thyroid Gland
;
Calcium
10.Endocrine and metabolic emergencies in children: hypocalcemia, hypoglycemia, adrenal insufficiency, and metabolic acidosis including diabetic ketoacidosis.
Annals of Pediatric Endocrinology & Metabolism 2015;20(4):179-186
It is important to fast diagnosis and management of the pediatric patients of the endocrine metabolic emergencies because the signs and symptoms of these disorders are nonspecific. Delayed diagnosis and treatment may lead to serious consequences of the pediatric patients, for example, cerebral dysfunction leading to coma or death of the patients with hypoglycemia, hypocalcemia, adrenal insufficiency, or diabetic ketoacidosis. The index of suspicion of the endocrine metabolic emergencies should be preceded prior to the starting nonspecific treatment. Importantly, proper diagnosis depends on the collection of blood and urine specimen before nonspecific therapy (intravenous hydration, electrolytes, glucose or calcium injection). At the same time, the taking of precise history and searching for pathognomonic physical findings should be performed. This review was described for fast diagnosis and proper management of hypoglycemic emergencies, hypocalcemia, adrenal insufficiency, and metabolic acidosis including diabetic ketoacidosis.
Acidosis*
;
Adrenal Insufficiency*
;
Calcium
;
Child*
;
Coma
;
Delayed Diagnosis
;
Diabetic Ketoacidosis*
;
Diagnosis
;
Electrolytes
;
Emergencies*
;
Glucose
;
Humans
;
Hypocalcemia*
;
Hypoglycemia*