These characteristics differentiate neonatal diabetes from type 1 diabetes, which presents later and in which autoantibodies are present. [medscape.com]

Permanent neonatal diabetes mellitus: clinical presentation and epidemiology in Oman. Arch Dis Child Fetal Neonatal Ed. 1999;80:F209–12. [link.springer.com]

In the present study, we sequenced the KCNJ11 gene in a Chinese boy diagnosed with permanent neonatal diabetes mellitus (PNDM) and also in his parents. [unboundmedicine.com]

A 50-day-old male presented with fever and seizure, complicated by persistent hyperglycemia... [readbyqxmd.com]

These patients often present with PNDM with additional features such as liver disease and epiphyseal dysplasia developing later. [diapedia.org]

• Epilepsy

  Neonatal Diabetes with Intractable Epilepsy: DEND Syndrome. [link.springer.com]

  As a new entity DEND-syndrome (developmental delay-epilepsy-neonatal diabetes) has been described, in which generalized epilepsy is most common and hypsarrhythmia has been observed in some cases. [thieme-connect.com]

  TY - JOUR T1 - Neonatal diabetes with intractable epilepsy: DEND syndrome. [unboundmedicine.com]

  Specific uncommon mutations KCNJ11give rise to a syndrome defined as developmental delay, epilepsy, and neonatal diabetes (DEND), or - more frequently - to a milder sub-type lacking epilepsy, denoted as intermediate-DEND (iDEND). [readbyqxmd.com]

  Discussion of Diagnosis DEND syndrome is defined as developmental delay with epilepsy, muscle weakness and neonatal diabetes and is caused by mutations in the KATP channel subunits Kir6.2 (encoded by KCNJ11) or SUR1 (sulfonylurea receptor 1; encoded by [medscape.com]

• Developmental Delay

  Successful transfer to sulfonylurea therapy in an infant with developmental delay, epilepsy and neonatal diabetes (DEND) syndrome and a novel ABCC8 gene mutation. Diabetologia. 2011;54:469–71. [link.springer.com]

  Discussion of Diagnosis DEND syndrome is defined as developmental delay with epilepsy, muscle weakness and neonatal diabetes and is caused by mutations in the KATP channel subunits Kir6.2 (encoded by KCNJ11) or SUR1 (sulfonylurea receptor 1; encoded by [medscape.com]

  What type of developmental delay is seen? Can sulphonylureas help delayed development as well as the diabetes? Summary Developmental delay affects approximately 20% of children with KCNJ11 or ABCC8 neonatal diabetes. [diabetesgenes.org]

  Approximately 20% have associated neurologic features: the most severe form, which includes epilepsy and developmental delay, is called developmental delay, epilepsy, and neonatal diabetes (DEND) syndrome and the milder form, with less severe developmental [readbyqxmd.com]

  delay, epilepsy, neonatal diabetes syndrome (disorder) | 6011000124106~MAPRULE~IFA 609565001 | Permanent neonatal diabetes mellitus | 6011000124106~MAPGROUP~1 6011000124106~MAPADVICE~IF DEVELOPMENTAL DELAY, EPILEPSY, NEONATAL DIABETES SYNDROME CHOOSE [bioportal.bioontology.org]

• Weakness

  Discussion of Diagnosis DEND syndrome is defined as developmental delay with epilepsy, muscle weakness and neonatal diabetes and is caused by mutations in the KATP channel subunits Kir6.2 (encoded by KCNJ11) or SUR1 (sulfonylurea receptor 1; encoded by [medscape.com]

  In about 10% of these patients additional neurological abnormalities like muscle weakness, disturbances of speech and epilepsy occur. [thieme-connect.com]

  However, the I296L mutation also results in developmental delay, muscle weakness and epilepsy. We investigated the functional effects of the I296L mutation by expressing wild-type or mutant Kir6.2/SUR1 channels in Xenopus oocytes. [ncbi.nlm.nih.gov]

  Results: After long time followed up, all of the 10 patients were diagnosed as PNDM. 2 patients accompanied with muscle weakness, developmental delay, which diagnosed as iDEND syndrome. [omicsonline.org]

  Patients with the severe neurological phenotype exhibit developmental delay, motor weakness, and epilepsy in addition to diabetes (DEND syndrome). Intermediate DEND syndrome is a less severe clinical picture. [endocrine-abstracts.org]

• Sepsis

  الصفحة 268 - American College of Chest Physicians/Society of Critical Care Medicine Consensus Conference: definitions for sepsis and organ failure and guidelines for the use of innovative therapies in sepsis. ‏ [books.google.com]

  6 months) (Medical Encyclopedia) Failure to thrive (Medical Encyclopedia) Hemorrhagic disease of the newborn (Medical Encyclopedia) Hyperglycemia - infants (Medical Encyclopedia) Neonatal respiratory distress syndrome (Medical Encyclopedia) Neonatal sepsis [icdlist.com]

  Neonatal diabetes mellitus accompanied by diabetic ketoacidosis and mimicking neonatal sepsis: a case report. J Clin Res Pediatr Endocrinol. 2010;2(3):131–133. 19. Gloyn AL, Pearson ER, Antcliff JF, et al. [dovepress.com]

  […] the first three to five days after birth, but can be found in infants up to 10 days of life; it usually resolves within two to three days of onset. 8 Typical causes for hyperglycemia in this group include increased parenteral glucose administration, sepsis [ncbi.nlm.nih.gov]

• Falling

  Loss of muscle tone causing the person to fall. Prone to head injuries. Tonic-Clonic (Grand Mal) Seizures Mixture of symptoms including stiffening of the body and repeated jerks of arms and legs, loss of consciousness. Loss of bladder/bowel control. [quizlet.com]

  […] diagnosis might have provided evidence against a diagnosis of type 1 diabetes mellitus; however, in a substantial minority of patients (~ 10-15%) with clinical features of type 1 diabetes mellitus, no autoantibodies are detectable, and the detection rate falls [medscape.org]

  In addition, the combination of clonazepam and clobazam could be effective in the ambulation and elimination of the falls (47). 6-Creatine Synthesis Disorders Creatine kinase converts creatine into creatine phosphate (48). [rcm.mums.ac.ir]

  […] the patients there will find this a topic of great interest too. http://www.facebook.com/groups/41019328476/ Thanks, Karen nomidalliance.org Clinical Trials CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls [rareshare.org]

• Failure to Thrive

  Testing is appropriate for: Infants with persistent hyperglycemia ± history of intrauterine growth retardation, osmotic polyuria, severe hydration and failure to thrive. [seattlechildrenslab.testcatalog.org]

  Affected individuals have slow growth before birth followed by hyperglycemia, dehydration and failure to thrive in infancy. [findzebra.com]

  Brief resolved unexplained event -- BRUE (Medical Encyclopedia) Crying - excessive (0-6 months) (Medical Encyclopedia) Failure to thrive (Medical Encyclopedia) Hemorrhagic disease of the newborn (Medical Encyclopedia) Hyperglycemia - infants (Medical [icdlist.com]

• Vomiting

  So now she is having more symptoms along with the vomitting/GI issues. I emailed pics of her rash to Dr. Spalding and Dr. Zeft today at Clev. [rareshare.org]

  At the age of 1 month and a half, he presented with polyuria–polydipsia, vomiting, tachypnoea and diabetic ketoacidosis, and was diagnosed on the basis of a blood glucose of 44 mmol/l, ketonuria and a pH of 6.99. [nature.com]

  After protein feeding, the infant may have recurrent vomiting, dehydration, hypotonia, lethargy, respiratory distress, and failure to thrive. More than 50% of the patients with MMA present with anemia, leukopenia, and thrombocytopenia (67, 69). [rcm.mums.ac.ir]

  The most common side effects are diarrhea, nausea, vomiting, and abdominal pain. 52 Hypoglycemia, transient allergic skin reactions, and tooth discoloration are some of the less common side effects. 14, 53 Also, the unknown interactions of sulfonylurea [dovepress.com]

• Nausea

  The most common side effects are diarrhea, nausea, vomiting, and abdominal pain. 52 Hypoglycemia, transient allergic skin reactions, and tooth discoloration are some of the less common side effects. 14, 53 Also, the unknown interactions of sulfonylurea [dovepress.com]

• Increased Appetite

  This causes many of the initial symptoms, which may include: Increased numbers of wet diapers Increased appetite Dehydration What Causes Neonatal Diabetes? Neonatal diabetes is a “monogenetic” disease. [nationwidechildrens.org]

• Macroglossia

  Macroglossia (30%), umbilical hernia (9%) and developmental delay may also be present. Initial treatment is with insulin, but for some patients the diabetes can be treated with diet or oral agents following relapse. [diapedia.org]

  Macroglossia (where the tongue is unusuallylarge) insome transient neonatal diabetes babies. [diabeteslibrary.org]

  […] insulin has often been used in these older patients, recent studies have shown that non-insulin therapies used for type 2 diabetes may be highly effective. 31,32 Associated features Patients with 6q24-related neonatal diabetes may also present with macroglossia [ncbi.nlm.nih.gov]

  Patients with a 6q24 locus abnormality may have developmental defects (macroglossia, umbilical hernia, cardiac malformations, renal and urinary malformations, non-autoimmune anemia, hypothyroidism with gland in situ) and neurological disorders (4, 11) [frontiersin.org]

  […] hormone receptors.28 HYMAI is an untranslated RNA of undetermined function.26 Patients with 6q24 mutation usually present earlier than those with KCNJ11/ABCC8 mutation.5 Additional features that may present in children with 6q24-related neonatal DM are macroglossia [dovepress.com]

• Hearing Impairment

  Recessive NEUROG3 Neurogenin 3 - Neonatal diabetes, malabsorptive diarrhea Recessive NKX2-2 NK2 homeobox 2 - Neonatal diabetes, developmental delay, hypotonia, hearing impairment, cortical blindness, short stature Recessive RFX6 Regulatory factor X6 [diapedia.org]

• Suggestibility

  Because consensus has been to screen patients for this mutation only if younger than 6 months at the time of diagnosis, we suggest that all patients under the age of 12 months at diagnosis should receive genetic testing for monogenic causes of diabetes [ncbi.nlm.nih.gov]

  Although all were diagnosed with neonatal diabetes, their clinical findings suggested different modes of disease development. [jcrpe.org]

  The brain MRI demonstrates symmetric high signal intensity of periventricular white matter on T2-weighted and FLAIR images, suggesting hypoxic anoxic encephalopathy or metabolic encephalopathy. [jkms.org]

• Seizure

  After 3 days seizures had ceased, the eeg showed only single epileptic discharges. Furtheron, the patient had HbA1c values around 6.5% without insulin and showed progress in the psychomotoric development. [thieme-connect.com]

  Febrile seizures in first year of life and then myoclonic seizures, occasionally status epilepticus. Medial Temporal Lobe epilepsy Most refractory epilepsy syndrome with mesial temporal sclerosis. Reason for surgical resection. [quizlet.com]

  Furthermore, serine deficient children have neurodevelopmental delay and variable clinical seizure patterns (60). Seizures begin as flexor spasms with West syndrome or generalized tonic-clonic seizures (61). [rcm.mums.ac.ir]

  A 50-day-old male presented with fever and seizure, complicated by persistent hyperglycemia. Insulin therapy was initiated. At 10 months of age, the patient was unable to hold his head up and make eye contact with others. [ncbi.nlm.nih.gov]

• Irritability

  She was doing well until 3 months old when she manifested an exaggerated crying with irritability, and one month later she exhibited repeated head and limbs spasms followed by drowsiness. [scielo.br]

  Infants with DKA may have few nonspecific symptoms such as tachypnea, lethargy, irritability, and sunken fontanels and eyes. Infants with DKA may develop electrolyte imbalance and dehydration. [dovepress.com]

  In GA1, neonates present with agitation, irritability, macrocephaly, and hypotonia. Seizures normally occur within the context of acute decompensation in association with the symptoms of rapid deterioration. [rcm.mums.ac.ir]

  Other techniques proven to be effective includes; wedging the hand between the legs or slapping it; warm water application and visual or tactile contact. [33] Additionally, Wu et al. [34] found that an irritating alarm activated by biofeedback reduced [en.wikipedia.org]

• Lethargy

  In older babies, a history of frequent urination, increased thirst, increased hunger, lethargy and loss of weight is usually mentioned by the parents leading to a diagnosis of diabetes. [diabeteslibrary.org]

  After protein feeding, the infant may have recurrent vomiting, dehydration, hypotonia, lethargy, respiratory distress, and failure to thrive. More than 50% of the patients with MMA present with anemia, leukopenia, and thrombocytopenia (67, 69). [rcm.mums.ac.ir]

  Infants with DKA may have few nonspecific symptoms such as tachypnea, lethargy, irritability, and sunken fontanels and eyes. Infants with DKA may develop electrolyte imbalance and dehydration. [dovepress.com]

Diagnostic Workup The first approach to hyperglycemia is evaluating if a specific cause could be the contributing factor. This should include assessing the amount of glucose administration. [dovepress.com]

• Hyperglycemia

  Patients with 6q24 have a transient hyperglycemia in infancy with onset of diabetes in adolescence. It is important to distinguish monogenic neonatal diabetes mellitus from other causes of hyperglycemia in the newborn. [ncbi.nlm.nih.gov]

  The difficulty in diagnosis is especially true in the preterm population or low birth weight infants.2,10 The prevalence of hyperglycemia in preterm infants can vary from 25% to 75%.9–11 Common reasons for hyperglycemia in these patients include: sepsis [dovepress.com]

  Neonatal diabetes mellitus (NDM) is a defect of insulin production characterized by the onset of hyperglycemia in the first six months of life. [seattlechildrenslab.testcatalog.org]

• Glucose Increased

  Panel B shows the median incremental increase in insulin and glucose concentration from baseline in response to intravenous glucose, oral glucose, and a mixed meal in seven patients whose treatment was successfully switched from insulin to sulfonylurea [nejm.org]

After a basic metabolic work up and a normal MRI scan of the brain we started an anticonvulsive treatment with sultiam at the same time as a therapy with sulfonylurea. [thieme-connect.com]

Glucose and C-peptide responses stimulated by oral glucose tolerance test (OGTT), hemoglobin A1c levels, the 8-point self-measured blood glucose (SMBG) profile and the frequency of hypoglycemia episodes were analyzed, before and during treatment with [discovery.dundee.ac.uk]

This case report highlights a case of successful sulfonylurea treatment in a patient with DEND syndrome. [ncbi.nlm.nih.gov]

With proper management, the prognosis for overall health and normal brain development is normally good. It is highly advised people living with NDM seek prognosis from their health care provider. [en.wikipedia.org]

[…] eld of pediatric diabetes, in an attempt to determine the most accurate diagnosis and its implications on appropriate treatment and prognosis. [dialnet.unirioja.es]

Furthermore, glyburide may improve the neurologic prognosis, by decreasing not only the number of hypoglycemia events, but also by restoring K ATP channel function in neuronal cells. [care.diabetesjournals.org]

The current investigation focused on the most common treatable epilepsies and other conditions in which early diagnosis and intervention could lead to better prognosis in children. [rcm.mums.ac.ir]

However, obtaining a genetic diagnosis remains imperative to inform long-term management and prognosis. [frontiersin.org]

Etiology DEND syndrome is caused in most cases by gain of channel function mutations in the KCNJ11 gene (11p15.1), encoding a subunit of the ATP-sensitive potassium (KATP) channel. [orpha.net]

Metabolic etiologies in West syndrome. Salar S, Moshé SL, Galanopoulou AS. Salar S, et al. Epilepsia Open. 2018 Mar 14;3(2):134-166. doi: 10.1002/epi4.12102. eCollection 2018 Jun. Epilepsia Open. 2018. PMID: 29881795 Free PMC article. Review. [pubmed.ncbi.nlm.nih.gov]

As the molecular genetic etiology provides key information on the clinical course and optimal treatment, molecular genetic testing should be performed as soon as an infant <6 months of age is diagnosed as having diabetes mellitus, without waiting for [medscape.org]

Although neonatal diabetes is a common outcome, the severity of symptoms and other associated features are dependent on the underlying genetic etiology. [dovepress.com]

Permanent neonatal diabetes mellitus: clinical presentation and epidemiology in Oman. Arch Dis Child Fetal Neonatal Ed. 1999;80:F209–12. [link.springer.com]

Summary Epidemiology Fewer than 40 cases have been reported to date. Clinical description DEND syndrome represents the most severe end of the neonatal diabetes mellitus spectrum. [orpha.net]

[…] collaborate analysis of diabetic criteria in AsiaDECODA研究 Diabetes epidemiology collaborate analysis of diabetic criteria in EuropeDECODE研究 Diabetes epidemiology research internationalDERI研究 Diabetes mellitus due to other specific mechanisms or disease [jds.or.jp]

Cited by Epidemiology and phenotypes of diabetes in children and adolescents in non-European-origin populations in or from Western Pacific region. James S, Maniam J, Cheung PT, Urakami T, von Oettingen J, Likitmaskul S, Ogle G. James S, et al. [pubmed.ncbi.nlm.nih.gov]

[citation needed] Epidemiology[edit] About 1 in 90,000 to 160,000 children born develops neonatal diabetes, with approximately half developing permanent and half transient neonatal diabetes.[17][18] See also[edit] Type 1 Diabetes Type 2 Diabetes References [en.wikipedia.org]

Genetics and pathophysiology of neonatal diabetes mellitus. J Diabetes Investig 2011;2:158–69. 2. Gloyn AL, Pearson ER, Antcliff JF, Proks P, Bruining GJ, Slingerland AS, et al. [e-apem.org]

"Genetics and pathophysiology of neonatal diabetes mellitus". Journal of Diabetes Investigation. 2 (3): 158–169. doi:10.1111/j.2040-1124.2011.00106.x. ISSN 2040-1116. PMC 4014912. [en.wikipedia.org]

J Mol Biol 234 : 779 – 815 ↵ Seino S, Miki T ( 2003 ) Physiological and pathophysiological roles of ATP‐sensitive K + channels. [embor.embopress.org]

Conclusion Neonatal diabetes is a model of rare human genetic disease, important in the understanding of the development and function of the pancreatic β cell, and in helping to resolve the pathophysiology of more frequent adult diabetes, such as type [frontiersin.org]

Can Neonatal Diabetes Be Prevented or Cured? Neonatal diabetes is caused by a genetic mutation. There’s currently no way to prevent or cure it, but it can be managed. [nationwidechildrens.org]

Mutations in KCNJ11 that cause iDEND act by reducing the ability of cellular ATP to block to the KATP channel.[1,2,7] As a consequence, the channel remains open when blood glucose levels rise, preventing insulin secretion.[2] As the mutation (His46Leu [medscape.com]

[…] programDPP試験 Diabetes prevention trial-1DPT-1試験 Diabetes prevention trial-Type 1DPT-1試験 Diabetic nephropathy remission and regression team trial in JapanDNETT-Japan Diabetic retinopathy candesartan trialsDIRECT試験 Donohue's syndromeドナヒュー症候群 Duloxetine [jds.or.jp]

Sulfonylureas improve K ATP channel function in the pancreatic β-cell and also in neuronal and muscle cells, and could potentially play a role in the treatment and/or prevention of such neurologic manifestations. [care.diabetesjournals.org]

Known genetic variants cause neonatal diabetes by five major mechanisms: Preventing the development of the pancreas or β cells, promoting β-cell death by autoimmunity or endoplasmic reticulum stress, preventing β cells from recognizing glucose or secreting [en.wikipedia.org]