Permanent neonatal diabetes mellitus

Permanent neonatal diabetes mellitus is a type of diabetes that first appears within the first 6 months of life and persists throughout the lifespan. This form of diabetes is characterized by high blood sugar levels (hyperglycemia) resulting from a shortage of the hormone insulin. Insulin controls how much glucose (a type of sugar) is passed from the blood into cells for conversion to energy.Individuals with permanent neonatal diabetes mellitus experience slow growth before birth (intrauterine growth retardation). Affected infants have hyperglycemia and an excessive loss of fluids (dehydration) and are unable to gain weight and grow at the expected rate (failure to thrive).In some cases, people with permanent neonatal diabetes mellitus also have certain neurological problems, including developmental delay and recurrent seizures (epilepsy). This combination of developmental delay, epilepsy, and neonatal diabetes is called DEND syndrome. Intermediate DEND syndrome is a similar combination but with milder developmental delay and without epilepsy.A small number of individuals with permanent neonatal diabetes mellitus have an underdeveloped pancreas. Because the pancreas produces digestive enzymes as well as secreting insulin and other hormones, affected individuals experience digestive problems such as fatty stools and an inability to absorb fat-soluble vitamins.

Different Conditions

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Neonatal diabetes mellitus

This is a form of monogenic diabetes is the neonatal diabetes caused by activating mutations of the KCNJ11 gene, which codes for the Kir6.2 subunit of the beta cell KATP channel. This disease is considered to be a type of maturity onset diabetes of the young (MODY).
Related ICD 10 COde
ICD 10 Code P70.2

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Syndromic permanent neonatal diabetes mellitus

This syndrome is characterized by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis. It has been described in four patients: two sisters and their female cousin belonging to a consanguineous Pakistani family, and one unrelated case (also born to consanguineous parents). Patients also present with facial dysmorphism (a triangular face, small chin, low set ears), flexion contractures of the arms and legs, very little subcutaneous fat, and optic nerve hypoplasia. One of the patients had pancreatic agenesis, and the others were suspected of having pancreatic hypoplasia. The syndrome is transmitted as an autosomal recessive disorder. It is caused by mutations in the PTF1A gene (10p12.3). Prenatal diagnosis is possible by demonstration of the absence of the cerebellum and severe intra-uterine growth retardation. All patients died in the neonatal period.

Additional Information

This syndrome is characterized by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis. It has been described in four patients: two sisters and their female cousin belonging to a consanguineous Pakistani family, and one unrelated case (also born to consanguineous parents). Patients also present with facial dysmorphism (a triangular face, small chin, low set ears), flexion contractures of the arms and legs, very little subcutaneous fat, and optic nerve hypoplasia. One of the patients had pancreatic agenesis, and the others were suspected of having pancreatic hypoplasia. The syndrome is transmitted as an autosomal recessive disorder. It is caused by mutations in the PTF1A gene (10p12.3). Prenatal diagnosis is possible by demonstration of the absence of the cerebellum and severe intra-uterine growth retardation. All patients died in the neonatal period.
Related ICD 10 COde
ICD 10 Code P70.2

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Transitory disorders of carbohydrate metabolism specific to fetus or newborn

Neonatal diabetes mellitus (NDM) is a monogenic form of diabetes that occurs in the first 6 months of life. It is a rare condition occurring in only one in 100,000 to 500,000 live births. Infants with NDM do not produce enough insulin, leading to an increase in blood glucose. NDM can be mistaken for the much more common type 1 diabetes, but type 1 diabetes usually occurs later than the first 6 months of life. In about half of those with NDM, the condition is lifelong and is called permanent neonatal diabetes mellitus (PNDM). In the rest of those with NDM, the condition is transient and disappears during infancy but can reappear later in life; this type of NDM is called transient neonatal diabetes mellitus (TNDM).

Organ Affected

Entire pancreas (body structure)|Pancreatic structure (body structure)

Also Known As

  • diabetes mellitus syndrome in newborn infant
  • neonatal diabetes
  • Related ICD 10 COde
    ICD 10 Code P70.2

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