Recovery without neurological sequelae of traumatic spinal epidural hematoma masquerading as Guillain-Barré syndrome in a child

Spinal cord lesions could mimic Guillain-Barré syndrome (GBS). Misdiagnosis as GBS can incur severe neurologic sequelae. We report the case of a previously healthy, 14-year-old boy with traumatic spinal epidural hematoma masquerading as GBS. He presented with sudden onset of tingling sensation on both hands and feet, which progressed into motor weakness of both legs. No abnormalities were found in brain magnetic resonance imaging and cerebrospinal fluid study. Despite intravenous immunoglobulin therapy for presumed GBS, the weakness progressed rapidly over 8 hours, resulting in complete loss of sensorimotor function below T4 level and loss of deep tendon reflexes. Whole spine magnetic resonance imaging showed a large epidural hematoma over the C5-T5 level. We found that he had experienced whiplash injury on an amusement ride about 3 weeks before. He underwent emergency decompressive laminectomy and hematoma removal, followed by vigorous rehabilitation treatment. On the fifth week of follow-up, he recovered from the complete loss of sensorimotor function. Thorough review of detailed history in emergency departments is required for children presenting with ascending paralysis. Also, rapid diagnostic and therapeutic interventions are crucial for maximum recovery of neurologic symptoms.

Varicella Zoster Meningitis in an Immunocompetent Child / 대한소아신경학회지

Neurologic complications associated with varicella zoster virus (VZV) are rare in children. A 13-year-old boy was hospitalized due to headache, fever, and vomiting. Aseptic viral meningitis was strongly suspicious based on findings on physical exam, cerebrospinal fluid examination, and brain magnetic resonance imaging. On the second day of hospitalization, typical zosteriform rashes developed on his left chest wall across the T7-T8 dermatome. Tzanck test of the skin lesion was positive and polymerase chain reaction test for VZV was positive on the second cerebrospinal fluid examination. Serum immunoglobulin levels were within normal range. Intravenous acyclovir was started and symptoms and signs of meningitis gradually improved and the patient was discharged without any complications. In immunocompetent children, VZV meningitis is rare and requires rapid diagnosis and treatment. Therefore, it is necessary to prompt diagnosis and treatment thorough medical history, physical examination and laboratory examination.

Clinical Features of Herpes Zoster in Children according to Immune Status / 대한소아신경학회지

PURPOSE: Herpes zoster appears in all ages and its incidence progressively increase. It is more common in elderly people or immunocompromised people and can be accompanied by serious complications. This study was performed to investigate the clinical manifestation of herpes zoster according to immune status in children. METHODS: This study was retrospectively included 307 children under 18 years who were diagnosed and treated with herpes zoster at Inha University Hospital from 1997 to 2017 based on medical records. These patients were divided into two groups according to their immunity and their clinical features were compared. RESULTS: The mean age of the total 307 patients was 10.2 years, 151 (49.2%) in males. Eighty-seven patients were hospitalized and 220 patients were treated in an outpatient clinic. Most patients received antiviral treatment. The most common dermatomal distribution of the skin lesion was the thoracic region, followed by trigeminal, lumbar and sacral, cervical region. Twenty-one patients were immunocompromised and fifteen of them were hematologic disorders. Admission rate, history of chickenpox and mean duration of treatment were significantly higher in immunocompromised group (P < 0.05). There was no significant difference in age, dermatomal distribution and complication between the two groups. Complications were observed in 50 cases and more than half of them were zoster ophthalmicus. Another complication was Ramsay-Hunt syndrome, meningitis and skin infection. CONCLUSION: Immunocompromised patients had a longer duration of treatment and a higher history of chickenpox. The incidence of complications, dermatomal distribution and age did not differ from that of immunocompetent children.

Recovery without Neurological Sequelae in Fulminant Cerebral Edema in Pediatric Encephalitis with Human Herpesvirus Type 6 / 대한소아신경학회지

Viral encephalitis can lead to serious neurological sequelae and death among younger children. It is also known that the mortality rate in encephalitis with cerebral edema or transtentorial brain herniation is higher. A 4-year-old boy visited our emergency department exhibiting mental change. The patient had a high fever for four and a whole-body rash for three days prior to his visit. He had displayed irritable symptoms and been vomiting for six hours before his visit, accompanied by seizure. After 13 hours of admission, the patient's right pupil became fixed and fully dilated, and the left pupil also became fixed and fully dilated within 30 minutes. Brain computed tomography (CT) was performed immediately, and severe brain swelling with transtentorial brain herniation was found. The mannitol dose was increased and dexamethasone was also added. Hyperventilation was performed through intubation to reach PaCO₂ levels of 25 to 30mmHg. Fifteen hours later, pupillary reflex was observed and the cerebral edema and transtentorial brain herniation was found to be improving in follow-up brain CT. He was transferred to a general ward after 11 days and discharged on the thirteenth hospital day without any neurological sequelae. Human herpesvirus type 6 (HHV-6) was detected in the serological polymerase chain reaction (PCR) examination.

A Case of Klinefelter Syndrome with Refractory Seizure in Infant / 대한소아신경학회지

Klinefelter syndrome a genetic disorder with various clinical manifestations. Neurological symptoms, such as seizures, are rarely reported with Klinefelter syndrome, and it response well to anti-epileptic drugs. A 5-month-old boy visited the Inha university hospital due to jerking movements and hiccups. The patient had been diagnosed with Klinefelter syndrome at birth and had a medical history of admission to the neonatal intensive care unit due to opisthotonus and ocular deviation at 26 days of age. The patient's serum testosterone level was decreased and his anti-Müllerian hormone level was increased. The brain image examination was normal and the electoencephalography and other blood test results showed no specific findings. However, after admission, the patient recurred generalized tonic-clonic-seizures recurred intermittently even after the administration of antiepileptic drugs. This paper reports a case of non-febrile seizures in a child with Klinefelter syndrome who presented with a refractory course.

Neurologic Manifestations according to Serotypes of Enterovirus in Pediatric Inpatient in Incheon / 대한소아신경학회지

PURPOSE: Enterovirus infection in children can manifest various disease and enterovirus have many serotypes. This study was aimed to investigate neurologic manifestations according to serotypes of enterovirus in pediatric inpatients in Incheon. METHODS: We collected the stool samples from the admitted pediatric patients in Inha University Hospital from January 2015 to September 2016. Enterovirus detection and serotypes identification were performed by real-time reverse transcriptase polymerase chain reaction (RT-PCR) and semi-nested RT-PCR. RESULTS: A total of 527 samples were collected during study period and 170 patients (32.2%) were diagnosed with enterovirus infections. Genetic sequences of enteroviruses were identified: echovirus 18 (50, 40.5%), enterovirus 71 (12, 9.6%), coxakievirus A10 (10, 8.0%), echovirus 6 (7, 5.6%). Virus in patient with meningitis were identified: echovirus 18 (15, 75%), coxakievirus B5 (2, 10%), enterovirus 71 (2, 10%), and echovirus 6 (1, 5%). Neurologic manifestations of echovirus 18 are headache (15, 30%), vomiting (17, 34%), meningeal irritation sign (10, 20.0%). And enterovirus 71 have headache (3, 25%), vomiting (3, 25%), meningeal irritation sign (2, 16.0%), seizure (1, 8.3%), neurologic sequelae (1, 8.3%). Echovirus 18 and neurologic manifestation have a statistically significant correlation with other serotypes (r=0.701, P < 0.01) CONCLUSION: Echovirus 18 infection was more prominent in neurological symptoms than in other serotypes. The major serotype of meningitis was echovirus 18 but there was no reported neurologic sequelae. Enterovirus infection has different neurological symptoms, depending on the serotypes.

The effect of low-dose intravenous bisphosphonate treatment on osteoporosis in children with quadriplegic cerebral palsy / 소아과

PURPOSE: Quadriplegic children with cerebral palsy are more susceptible to osteoporosis because of various risk factors that interfere with bone metabolism. Pamidronate is effective for pediatric osteoporosis, but there are no guidelines for optimal dosage or duration of treatment in quadriplegic children with osteoporosis. We aimed to evaluate the efficacy of low-dose pamidronate treatment in these patients. METHODS: Ten quadriplegic patients on antiepileptic drugs (6 male, 4 female patients; mean age, 10.9±5.76 years), with osteoporosis and gross motor function classification system level V, were treated with pamidronate (0.5–1.0 mg/kg/day, 2 consecutive days) every 3–4 months in a single institution. The patients received oral supplements of calcium and vitamin D before and during treatment. The lumbar spine bone mineral density (BMD) z score and biochemical markers of bone metabolism were measured regularly during treatment. RESULTS: The main underlying disorder was perinatal hypoxic brain damage (40%, 4 of 10). The mean cumulative dose of pamidronate was 4.49±2.22 mg/kg/yr, and the mean treatment period was 10.8±3.32 months. The BMD z score of the lumbar spine showed a significant increase from −4.22±1.24 before treatment to −2.61±1.69 during treatment (P=0.008). Alkaline phosphatase decreased during treatmentn (P=0.037). Significant adverse drug reactions and new fractures were not reported. CONCLUSION: Low-dose pamidronate treatment for quadriplegic children with cerebral palsy increased lumbar BMD and reduced the incidence of fracture.

Epidemiology and Clinical manifestations of Enterovirus in Pediatric Inpatient in Incheon

PURPOSE: Enterovirus (EV) infection in children can manifest various diseases from asymptomatic infection to nonspecific febrile illness, hand-foot-mouth disease, and aseptic meningitis. This study was aimed to investigate epidemiology and clinical significance of various genotypes of EV infections in pediatric inpatient. METHODS: We collected the stool samples from the admitted pediatric patients in Inha University Hospital from March 2014 to March 2015. EV detection and genotype identification were performed by real-time RT-PCR and semi-nested RT-PCR. Phylogenetic trees were constructed by neighbor joining method. RESULTS: A total of 400 samples were collected during study period and 112 patients (28%) were diagnosed with EV infections. The mean age of EV positive patients was 2.66 years (0.1-14) and sex ratio was 1.73:1. Genetic sequences of EVs were identified; coxsackievirus B5 (17, 15.2%), coxsackievirus A16 (13, 11.6%), enterovirus 71 (10, 8.9%), and coxsackievirus A2 (9, 8.0%). Nonspecific febrile illness (96, 86%) was the most common clinical manifestation and the duration of fever was 0-11 days (mean 3.1 days). Rash (44, 39%) and meningitis (43, 38%) were followed. Patients who were attending daycare center or had siblings accounted for 82.1%. Phylogenetic relationship tree revealed 6 distinct genogroups among 56 types of EVs. CONCLUSIONS: This study is the report of epidemiology, serotype distribution and clinical manifestations of children with EV infection in Incheon. This data will be helpful for further study about the epidemiology of EV infection in Korea.

Complete occlusion of the right middle cerebral artery associated with Mycoplasma pneumoniae pneumonia / 소아과

We report a case of a 5-year-old girl who developed left hemiparesis and left facial palsy, 6 days after the initiation of fever and respiratory symptoms due to pneumonia. Chest radiography, conducted upon admission, showed pneumonic infiltration and pleural effusion in the left lung field. Brain magnetic resonance imaging showed acute ischemic infarction in the right middle cerebral artery territory. Brain magnetic resonance angiography and transfemoral cerebral angiography revealed complete occlusion of the right middle cerebral artery. Mycoplasma pneumoniae infection was identified by a 4-fold increase in IgG antibodies to M. pneumoniae between acute and convalescent sera by enzyme-linked immunosorbent assay. Fibrinogen and D-dimer levels were elevated, while laboratory exams in order to identify other predisposing factors of pediatric stroke were all negative. This is the first reported pediatric case in English literature of a M. pneumoniae-associated cerebral infarction involving complete occlusion of the right middle cerebral artery.

Complete occlusion of the right middle cerebral artery associated with Mycoplasma pneumoniae pneumonia / 소아과

We report a case of a 5-year-old girl who developed left hemiparesis and left facial palsy, 6 days after the initiation of fever and respiratory symptoms due to pneumonia. Chest radiography, conducted upon admission, showed pneumonic infiltration and pleural effusion in the left lung field. Brain magnetic resonance imaging showed acute ischemic infarction in the right middle cerebral artery territory. Brain magnetic resonance angiography and transfemoral cerebral angiography revealed complete occlusion of the right middle cerebral artery. Mycoplasma pneumoniae infection was identified by a 4-fold increase in IgG antibodies to M. pneumoniae between acute and convalescent sera by enzyme-linked immunosorbent assay. Fibrinogen and D-dimer levels were elevated, while laboratory exams in order to identify other predisposing factors of pediatric stroke were all negative. This is the first reported pediatric case in English literature of a M. pneumoniae-associated cerebral infarction involving complete occlusion of the right middle cerebral artery.

Development of multifocal nodular lesions of a liver mimicking hepatic metastasis, following resection of an insulinoma in a child / 소아과

Insulinoma, which arises from insulin-producing pancreatic beta cells, is a rare tumor in children. Only 5%-10% of insulinomas are malignant and undergo metastasis. We report a case of an 11-year-old girl who experienced hypoglycemia-related seizures induced by an insulinoma; after resection of the primary tumor, she developed hepatic focal nodular hyperplasia (FNH). Laboratory test results indicated marked hypoglycemia with hyperinsulinemia. Abdominal ultrasonography (US) and computed tomography results were normal; however, magnetic resonance imaging (MRI) showed a solid mass in the pancreatic tail. Therefore, laparoscopic distal pancreatectomy was performed. Two months after the surgery, an abdominal MRI revealed multiple nodular lesions in the liver. An US-guided liver biopsy was then performed, and histological examination revealed FNH without necrosis or mitotic activity. The patient has been free of hypoglycemia for 2 years, and recent MRI studies showed a decrease in the size of FNH lesions, without any evidence of metastasis. Even though no metastatic lesions are noted on imaging, close observation and follow-up imaging studies are required in a child with insulinoma that has malignant potential on histopathologic findings.

Benign convulsion with mild gastroenteritis / 소아과

Benign convulsion with mild gastroenteritis (CwG) is a type of afebrile seizure that occurs in children. CwG is defined as a convulsion in a previously healthy child with no known central nervous system infection or encephalopathy, accompanying mild diarrhea without fever, electrolyte imbalance, or moderate to severe dehydration. Convulsions in CwG are characterized by multiple brief episodes of generalized or focal seizures. Although the etiology and pathophysiology have yet to be fully explained, many pathogenic mechanisms have been proposed including the possibility of direct invasion of the central nervous system by a gastrointestinal virus such as rotavirus or the possibility of indirect influence by the production and effects of certain mediators. The electroencephalogram findings are benign and long-term antiepileptic treatment is typically not required. Long-term prognosis has been favorable with normal psychomotor development. This review provides a general overview of CwG with the goal of allowing physicians practicing in the field of pediatrics to better recognize this unique entity and, ultimately, to minimize unnecessary evaluation and treatment.

Is It Possible to Predict the Iron Status from an Infant's Diet History? / 대한소아소화기영양학회지

PURPOSE: Iron deficiency remains a very common nutritional problem despite the improvement in nutrition and increased understanding of methods for its prevention. Thus, we try to create a new method for screening iron nutrition through infant nutrition history. METHODS: Among the children who visited Inha University Hospital from March 2006 to July 2012, 181 children with iron deficiency anemia (IDA) and 52 children without IDA ranging from 6 to 36 months of age were reviewed in this study. We used the age when they began to wean food, the type of sort weaning foods, the time required for successful weaning, iron content in weaning foods, and the duration of breastfeeding for scoring infant nutrition history based on a questionnaire. RESULTS: The mean score of the IDA group was 7.8+/-2.6 points, which was significantly higher than that of the control group (5.6+/-2.1) (p=0.000). If we set up the cutoff value at 6 points, this screening has 86.8% sensitivity and 36% specificity. In addition, as the IDA score increased, there was a falling trend of hemoglobin. CONCLUSION: The IDA score does not have high specificity or high sensitivity. However, this study conveys that those patients who record a high score have low hemoglobin. Therefore, we suggest this score system for screening more IDA patients via nonpainful techniques.

Epileptic Nystagmus and Vertigo Associated with Bilateral Temporal and Frontal Lobe Epilepsy

Epileptic nystagmus is defined as a quick, repetitive jerky movement of the eyeball associated with seizure activity. In cases of epileptic nystagmus associated with ictal discharge from multiple brain areas, localization of the exact epileptogenic zone could be extremely difficult. In a nine-year-old patient with epileptic nystagmus and vertigo associated with bilateral temporal and frontal lobe epilepsy, we could infer the epileptic focus by interpreting the patient's clinical picture, characteristics of nystagmus, and findings of electroencephalography.

The Chracteristics of Hypoxic Ischemic Encephalopathy with Seizures in Children / 대한소아신경학회지

PURPOSE: This study was aimed to evaluate the clinical features of hypoxic ischemic encephalopathy(HIE) in children with and without seizures. METHODS: Fifty five children who had been diagnosed as HIE at Inha University Hospital from June 1999 to December 2011 were enrolled in this study. Subjects were divided into two groups by the presence of seizures and their medical records were retrospectively analyzed. RESULTS: Among the 55 cases, 34 patients (61.8%) had seizures, while 17 patients (32.2%) did not have them. Male to female ratio was 1:1 for the 'seizure' group and 2.5:1 for the 'no seizure' group. The onset age was 9.7 months (range: 0-158 months) for the 'seizure' group and 10 months (range : 0-108 months) for the 'no seizure' group. The most common risk factor was birth asphyxia (17.7%) for the 'seizure' group, and prematurity (23.8%) for the 'no seizure' group. The most common symptom other than seizure was respiratory arrest for both groups. On radiologic imaging studies of the brain, main causative lesion was most commonly observed in the cerebral cortex in both groups. The neurologic deficits or death were detected in 67.7% of the 'seizure' group, and 76.3% of the 'no seizure' group. There were no statistically significant differences in risk factors between the two groups. CONCLUSION: Although the characteristics between patients with and without seizures from HIE revealed no significant differences, HIE still can result in death or permanent disability in children. Therefore, permanent brain damage may be minimized by early suspicion and treatment in these patients.

Serum glycated albumin as a new glycemic marker in pediatric diabetes

PURPOSE: Serum glycated albumin (GA) has been recently used as another glycemic marker that reflects shorter term glycemic control than glycated hemoglobin (HbA1c). Insulin secretory function and glycemic fluctuation might be correlated with the ratio of GA to HbA1c (GA/HbA1c) in diabetic adult patients. This study investigated the association of GA and GA/HbA1c ratio with the levels of fasting C-peptide, fasting plasma glucose in type 1 and type 2 pediatric diabetes. METHODS: Total 50 cases from 42 patients were included. The subjects were classified into type 1 diabetes mellitus (T1DM) (n=30) and type 2 diabetes mellitus (T2DM) (n=20) group. The associations among HbA1c, GA, and GA/HbA1c ratio were examined. The relationship between the three glycemic indices and fasting glucose, fasting C-peptide were analyzed. RESULTS: Mean values of GA, the GA/HbA1c ratio were significantly higher in T1DM than T2DM. GA (r=0.532, P=0.001), HbA1c (r=0.519, P=0.002) and the GA/HbA1c ratio (r=0.409, P=0.016) were correlated with the fasting plasma glucose. Fasting C-peptide level arranged 4.22+/-3.22 ng/mL in T2DM, which was significantly above the values in T1DM (0.26+/-0.49 ng/mL). There were no significant correlation between HbA1c and fasting C-peptide level. However, GA and the GA/HbA1c ratio exhibited inverse correlations with fasting C-peptide level (r=-0.214, P=0.002; r=-0.516, P<0.001). CONCLUSION: GA seems to more accurately reflects fasting plasma glucose level than HbA1c. GA, GA/HbA1c ratio appear to reflect insulin secretory function.

The Comparative Analysis of Bacterial and Aseptic Meningitis in Neonates / 대한소아신경학회지

PURPOSE: This study was aimed to evaluate the clinical features of bacterial and aseptic meningitis in neonates. METHODS: Seventy seven neonates who diagnosed with meningitis at Inha University Hospital from June 1996 to August 2010 were enrolled in this study. The subjects were classified into either bacterial or aseptic meningitis and their medical records were retrospectively analyzed. RESULTS: Among the 77 cases, 18 cases were bacterial and 59 cases were aseptic. The main symptoms of both groups were fever, moaning in order. In bacterial meningitis, Group B streptococci (GBS) was the most common causative organism (12/18. 75%). In peripheral blood exam, patients with bacterial meningitis were more likely to show leukocytosis (WBC >20,000/mm3) and leukopenia (WBC <5,000/mm3) than those with aseptic meningitis. CRP was also significantly increased in the group of bacterial meningitis. In CSF analysis, 61.2% revealed pleocytosis more than 1,000/mm3 in bacterial meningitis and 8.5% did in aseptic meningitis. CSF glucose were <40 mg/dL in 72.2% of the group of bacterial meningitis and 35.6% of the group of aseptic meningitis. Mean CSF protein was 289.6+/-221.2 mg/dL in bacterial meningitis and 107.6+/-73.9 mg/dL in aseptic meningitis. Abnormal radiologic findings were found in 44.4% of bacterial meningitis and 8.4% of aseptic meningitis. The treatments were empirically initiated with ampicillin and cefotaxime in 60 cases, ampicillin and aminoglycosides in 12 cases. CONCLUSION: Although the clinical features of bacterial and aseptic meningitis are similar, peripheral blood and CSF exams revealed significant differences. Based on these differences, appropriate antibiotic treatment can be selected before the identification of causative agents.

Clinical Features of Seizures Related to Rickets in Breastfed Children / 대한소아신경학회지

PURPOSE: This study was aimed to evaluate the clinical features of seizures in breastfed children with vitamin D deficient rickets. METHODS: Seventeen children, breastfed and diagnosed as vitamin D deficient rickets at Inha University Hospital from January 2000 to July 2010, were retrospectively investigated. Subjects were divided into two groups according to the presence/absence of seizures. Demographic and biochemical results were compared and statistically analyzed between the two groups, and the relative risk for seizure occurrence was estimated. Clinical features of seizures were also analyzed. RESULTS: Out of the 17 subjects, nine patients (53.0%) had seizures, while eight patients (47.0%) did not. The mean age for the two groups were 4.1+/-2.0 months and 9.3+/-2.7 months, respectively, which was statistically different between the two groups (P<0.0001). Serum calcium (Ca) and 25-hydroxyvitamin D3 (25-OHD3) levels were significantly lower in the 'seizure' group (5.7+/-1.0 vs. 9.5+/-0.9 mg/dL, P<0.0001; 5.7+/-0.8 vs. 15.3+/-4.2 IU/L, P<0.0001). The relative risk for seizure occurrence was 8 times higher in hypocalcemia and 17 times higher in 25-OHD3<8 ng/mL. Seizures occurred several times as generalized or focal types, but none of them developed epilepsy nor showed developmental abnormalities later on. CONCLUSION: Seizures in breastfed children with vitamin D deficiency rickets are mainly due to hypocalcemia, which is affected by 25-OHD3 levels. Seizures may also occur more frequently in children in the stages of rapid growth. Although seizures occurred multiple times, future outcomes were favorable. Further large-scaled prospective studies are required in the future.

Current Status of ADHD Treatment in Children with Epilepsy: A Retrospective, Multicenter, Cross Sectional Analysis in Korea / 대한소아신경학회지

PURPOSE: The purpose of this study was to assess the current therapeutic status of attention deficit-hyperactivity disorder (ADHD) in children with epilepsy. METHODS: A cross-sectional survey of 178 patients aged 4-20 years from ten pediatric neurology clinics in eight cities in South Korea from January 2005 to July 2010 was used to assess clinical characteristics of ADHD patients with epilepsy and risk factors associated with ADHD. RESULTS: A total of 178 pediatric epileptic patients were recruited for this study. One hundred seventy-four subjects' (M:F=4:1, mean age: 12.2+/-3.3 yrs old) records were evaluated excluding four patients due to incomplete data. One hundred twenty-five of 174 patients (71.8%) had partial epilepsy and 45 had generalized epilepsy. Eighty of 112 patients showed ADHD combined type from the DSM IV. The mean prevalence rate of ADHD treatment among the epileptic patients was 1.9%. Over 45% of patients showed complete or persistent symptoms without difficulties in school life with CNS stimulants. Adverse reactions were reported in 19.8% of patients who received ADHD medication, and 18 patients discontinued ADHD medication due to severe adverse effects such as aggravated seizures (5.6%) or ADHD symptoms (3.7%). About 60% of children with ADHD and epilepsy had psychiatric comorbid disorders. CONCLUSION: The results indicate that ADHD treatment in epilepsy patients is safe and effective. However, these data also show that ADHD in pediatric epilepsy patients in Korea is under-diagnosed and under-treated.

A Case of Turner Syndrome Associated with Idiopathic Central Diabetes Insipidus / 대한소아내분비학회지

We report a case of Turner syndrome associated with idiopathic central diabetes insipidus in a 12-year-old girl, who presented with polyuria and polydipsia after a year. The patient was very short and and centrally obese, and was initially diagnosed with Turner syndrome, hyperlipidema, and diabetes mellitus. A water deprivation test revealed central diabetes insipidus, and sellar magnetic resonance imaging (MRI) showed a thickening of the pituitary stalk, with normal high signal intensity in the posterior pituitary gland. Replacement therapy with desmopressin was initiated, and follow-up sellar MRI findings after two years showed spontaneous regression of the thickened pituitary stalk. There are only few reports of concomitant Turner syndrome with central diabetes insipidus worldwide. Further observation is needed in order to disclose the cause of central diabetes insipidus in patients having Turner syndrome.