In this paper, we present two siblings with TBX19 gene mutation. The first case was investigated at the age of 2 months for severe hypoglycemia, recurrent convulsions, and prolonged cholestatic jaundice persisting since the neonatal period. [ncbi.nlm.nih.gov]

• Asymptomatic

  However, controversy remains surrounding its definition and management especially in asymptomatic patients. [ncbi.nlm.nih.gov]

  Asymptomatic hypoglycemic (blood glucose level Results: Dextrose gel with feeds increased the blood glucose level in 184/250 (74%) of asymptomatic hypoglycemic infants compared to 144/248 (58%) with feeds only (p 0.01). [karger.com]

  The level of blood glucose at which treatment is recommended in asymptomatic babies is unclear. Blood glucose levels as low as 30 mg/dL in the first 1–2 hours after birth in asymptomatic babies may not be harmful. [babygooroo.com]

• Hypothermia

  Hypothermia 5. Hyperviscosity 6. Erythroblastosis fetalis, fetal hydrops 7. Other a. Iatrogenic causes b. Congenital cardiac malformations C. Intrauterine growth restriction D. Hyperinsulinism E. Endocrine disorders F. [aafp.org]

  Factors which increase the risk of hypoglycemia • Various factors which increase the risk of hypoglycemia are hypothermia & cold Stress, cold environment, wet baby and inadequate feeding. 6. [slideshare.net]

  Neuroglycopenic signs include seizure, coma, cyanotic episodes, apnea, bradycardia or respiratory distress, and hypothermia. Listlessness, poor feeding, hypotonia, and tachypnea may occur. [msdmanuals.com]

  Symptoms Jittery or Tremors Lethargic Hypotonia Apnea Hypothermia Cyanosis Seizures Weak or high pitched cry Poor feeding V. [fpnotebook.com]

• Poor Feeding in Infants

  A 6-day old term infant born to a non-diabetic mother was admitted to our hospital with, seizures, irritability and poor feeding. The infant's Apgar score was 8 at 1 minute and 9 at 5 minutes and weighed 3100 g. [ijri.org]

• Sweating

  Difficulty breathing or pauses in breathing (apnea) Rapid breathing Problems regulating body temperature Decreased muscle tone, medically referred to as hypotonia Irritability Grunting Fatigue Listlessness Nausea Skin paleness Vomiting Poor feeding Sweating [thecplawyer.com]

  […] pale skin Breathing problems, such as rapid breathing (tachypnea), pauses in breathing (apnea), or a grunting sound Irritability or listlessness Loose or floppy muscles (hypotonia) Vomiting or poor feeding Weak or high pitched cry Tremors, shakiness, sweating [abclawcenters.com]

  Other symptoms may be dizziness, tremulousness, sweating, and insomnia. [kmle.co.kr]

  […] associated with the hypoglycemic neonates were, refusal of feeding (45%), hyporeflexia (36.2%), irritability (30%), cyanosis (28.4%), tackypnea (24.5%), seizure (16.6%), weak cry (15.8%), apneic spels (9.8%), pallor (1.9%), cardiac arrest (9.1%) and sweating [pjms.com.pk]

  Bluish-colored or pale skin Breathing problems, such as pauses in breathing (apnea), rapid breathing, or a grunting sound Irritability or listlessness Loose or floppy muscles Poor feeding or vomiting Problems keeping the body warm Tremors, shakiness, sweating [medlineplus.gov]

• Visual Hallucination

  Ictal manifestations of main seizures were identical to occipital lobe seizures, such as eye deviation, eye blinking, ictal vomiting, and visual hallucination. [ncbi.nlm.nih.gov]

• Lethargy

  Adrenergic signs include diaphoresis, tachycardia, lethargy or weakness, and shakiness. Neuroglycopenic signs include seizure, coma, cyanotic episodes, apnea, bradycardia or respiratory distress, and hypothermia. [msdmanuals.com]

  View/Print Table TABLE 1 Clinical Signs Associated with Hypoglycemia* Changes in levels of consciousness Irritability Lethargy Stupor Apnea, cyanotic spells Coma Feeding poorly after feeding well Hypothermia Hypotonia, limpness Tremor Seizures TABLE 1 [aafp.org]

  The most common clinical manifestations can include altered level of consciousness, seizure, vomiting, unresponsiveness, and lethargy. [emedicine.medscape.com]

  Some infants will display no obvious symptoms, while others will exhibit lethargy, apnea, a bluish hue to the skin, low body temperatures, jitters, and in severe cases, seizures. [thurswell.com]

• Neonatal Seizures

  Nine children with neonatal seizures had moderate or severe white matter injury and 7 had cortical involvement. At 18-month follow-up of 34 children, outcome was normal in 8, showed mild impairment in 15, moderate in 8, and severe impairment in 3. [pediatricneurologybriefs.com]

  seizures -- Intraventricular hemorrhage -- Surgical emergencies in the newborn -- Necrotizing enterocolitis. [worldcat.org]

  Figures and Tables - Analysis 1.5 Comparison 1 Dextrose gel versus control, Outcome 5 Neonatal seizures. Figures and Tables - Analysis 1.6 Comparison 1 Dextrose gel versus control, Outcome 6 Exclusive breast feeding after discharge (WHO definition). [cochranelibrary.com]

  Neonatal seizure s ‐ No seizures occurred in the dextrose gel or placebo group in the one study that reported this outcome (one study, 237 infants). Therefore, the odds ratio is not estimable. [doi.org]

• Apathy

  “In approximate order of frequency there are jitteriness or tremors, apathy, episodes of cyanosis, convulsions, intermittent apneic spells or tachypnea, weak or high-pitched cry, limpness or lethargy, difficulty in feeding, and eye rolling. [cps.ca]

  […] judgment Nonspecific dysphoria, moodiness, depression, crying, exaggerated concerns Feeling of numbness, pins and needles (paresthesia) Negativism, irritability, belligerence, combativeness, rage Personality change, emotional lability Fatigue, weakness, apathy [en.wikipedia.org]

• Behavior Problem

  Other neurologic problems included developmental delays, learning and behavior problems, hyperactivity and attention difficulties, autistic features, microcephaly and cortical blindness. [ncbi.nlm.nih.gov]

[…] errors of metabolism Glycogen storage disease, fatty oxidation errors Evaluation Blood glucose level blood glucose 40mg/dL (preterm infants repeated levels below 50) There is a normal fall in glucose @ 2-4hr of life If no obvious precipitant, consider workup [wikem.org]

For infants experiencing transient hypoglycemia, an extensive diagnostic workup is not necessary. If persistent hyperinsulinism is suspected, the diagnostic workup will include plasma insulin, β-hydroxybutyrate, and free fatty acid levels. [ncbi.nlm.nih.gov]

• Free Fatty Acids Increased

  This glycolytic pathway along with free fatty acids increases adenosine triphosphate (ATP) production within the β-cell. KATP channels consist of two subunits, the sulfonylurea (SUR) and the inward rectifier potassium channel (Kir6.2) subunits. [ncbi.nlm.nih.gov]

• Hypoketotic Hypoglycemia

  In addition, the incidence of neurodevelopmental delay was 44%.51 Adverse outcomes are presumed to be caused by hypoketotic hypoglycemia, but there may be other genetic abnormalities affecting neurodevelopment in this patient population as yet unidentified [ncbi.nlm.nih.gov]

• Fasting Hypoglycemia

  Activating mutations of glucokinase (GCK) ( Fig. 1 ), the “glucose sensor” of the β-cell, are rare and, depending on the mutation, may cause fasting hypoglycemia in varying degrees at varying ages of life ( 8 ). [diabetes.diabetesjournals.org]

  Protein-sensitive and fasting hypoglycemia in children with the hyperinsulinism/hyperammonemia syndrome. J Pediatr. 2001;138:383–9. PubMed CrossRef Google Scholar 16. Bahi-Buisson N, Roze E, Dionisi C, Escande F, Valayannopoulos V, Feillet F, et al. [link.springer.com]

  HI Patients with this disorder present post-prandial and fasting hypoglycemia and permanent hyperammoniemia, neurological signs and epilepsy occur later in infancy and are not consequences of recurrent hypoglycemia [17]. [latunisiemedicale.com]

IMPLICATIONS FOR RESEARCH: There is a need for rigorous long-term studies comparing treatment thresholds and neurodevelopmental outcomes among various treatment strategies for TANH. [ncbi.nlm.nih.gov]

[…] from an estimated 35% in the placebo group to 20% in the treatment group. [ebneo.org]

This study indicates neonatal hypoglycemia may cause posterior cerebral lesions, abnormal findings at neurologic examination, and symptomatic epilepsy, most frequently occipital lobe epilepsy, usually with a good prognosis, and occasionally epileptic [ncbi.nlm.nih.gov]

(See Prognosis.) Causes of hypoglycemia in neonates differ slightly from those in older infants and children. [emedicine.medscape.com]

In almost all infants with transient neonatal hypoglycemia, the prognosis is good, with no associated morbidities. [cancertherapyadvisor.com]

The etiology of this pattern of injury is unclear; however, transient hyperinsulinism may be an independent risk factor. Magnetic resonance brain imaging can delineate the extent of brain injury and guide follow-up. [ncbi.nlm.nih.gov]

(See Etiology.) Causes of hypoglycemia found in all ages include gram-negative sepsis, endotoxin shock, and ingestions, including of salicylates, alcohol, hypoglycemic agents, or beta-adrenergic blocking agents. [emedicine.medscape.com]

The definition of neonatal hypoglycemia has been based on the following approaches (or combination of approaches): clinical symptoms (see Table 1 ), epidemiologic approach based on a range of glucose values, acute changes in metabolic and endocrine response [aafp.org]

Antonius Hospital, Departments of Research and Epidemiology (L.M.D.) and Pediatrics (M.D. [nejm.org]

European Journal of Epidemiology. 33 (10): 1011–1020. doi:10.1007/s10654-018-0425-5. ISSN 0393-2990. PMC 6153551. PMID 30030683. Stomnaroska, Orhideja; Petkovska, Elizabeta; Jancevska, Snezana; Danilovski, Dragan (2017-03-01). [en.wikipedia.org]

Journal of Clinical Epidemiology 2005; 58: 769-776. [alliedacademies.org]

Hypoglycemia in Diabetes: Pathophysiology, Prevalence, and Prevention. American Diabetes Association: : Alexandria, VA, USA, 2009. 15. Lucas A, Morley R, Cole TJ. Adverse neurodevelopmental outcome of moderate neonatal hypoglycemia. [nature.com]

In this article, the authors review the clinical manifestations, pathophysiology, diagnostic criteria, and efficacy of multimodal treatment strategies for Nelson's syndrome. [ncbi.nlm.nih.gov]

Early diagnosis, urgent treatment, and prevention of future episodes of hypoglycemia are the cornerstones of management, now supported by recent advances in molecular genetics [48] and in our understanding of the pathophysiology of neonatal hypoglycemia [intechopen.com]

The pathophysiology of Nelson's syndrome and the factors leading to its development are poorly understood. [patient.info]

Studies applying a continuous glucose monitor (CGM) could provide more insight in normal and pathophysiological blood glucose profiles in neonates. [care.diabetesjournals.org]

We evaluated the effect of a national prevention guideline stratified according to mild, moderate, and severe risks of hypoglycemia. [ncbi.nlm.nih.gov]

[…] further hypoglycemia as well.[1] Nursing care management[edit] The biggest nursing concern for a neonate experiencing hypoglycemia is the physical assessment to potentially find the cause.[1] It is also essential to prevent environmental factors such [en.wikipedia.org]