Acknowledgement of Bangstad Syndrome has not been added yet.

Bangstad syndrome has been described in two cases of siblings in Norway with this condition in 1989 and no cases have been recorded in scientific literature since. 

 

Name	Abbreviation
Bird-headed dwarfism with progressive ataxia
Primary gonadal insufficiency
Ataxia-diabetes-goiter-gonadal insufficiency syndrome

Polypeptide hormones are short chains of amino acids, or small proteins, that are responsible for regulation by signaling between cells to start certain growth processes. These hormones are shuttled outside of the cell and between organelles within the cell via cell membrane receptors. The following polypeptide hormones were found at unusually high levels in individuals with Bangstad syndrome: parathyroid hormone (PTH), luteinizing hormone (LH), follicle stimulating hormone (FSH), adrenocorticotropic hormone (ACTH), glucagon, and insulin. It has been hypothesized that the cause of these elevated levels of hormones could be a cell membrane defect that does not allow for proper signal transduction. This could cause the appearance of endocrinological symptoms (pertaining to hormones) along with neurological symptoms (pertaining to brain development). The genetic inheritance pattern of Bangstad syndrome is likely autosomal recessive, due to another sibling in the same family not developing any symptoms.

The following were all symptoms observed by Bangstad et al. in the two siblings that, when seen in combination, characterize Bangstad syndrome: 

• Dwarfism - shortened stature and features

• Reduced cognitive abilities

• Bird-headed characteristics - large deep-seated eyes, beak-like nose, narrow face, receding mandible, receding forehead, crowded teeth, and abnormally bent or protruding pinky finger (clinodactyly)

• Ataxia - lack of coordination due to dysfunction of the cerebellum region of the brain, leading to lack of coordinated movement in limbs, muscles and joints, inability to perceive depth and judge distances to properly interact with objects (dysmetria), and lacking to coordination to perform quick, repetitive movements (dysdiadochokinesia)

• Insulin-resistant diabetes mellitus - lack of response to supplied insulin to muscle, liver, and fat cells, leads to increases in glucose levels in the blood that does not respond to dosing insulin

• Goiter - enlarged thyroid gland in the neck

• Primary gonadal insufficiency - occurs when the body does not produce sufficient hormones from the appropriate sex glands

• Seizures - sudden abnormal electrical activity between neurons in the brain that can cause uncontrollable muscle stiffness or movement, cognitive or behavioral shifts, or other short-term symptoms until the electrical activity passes

A diagnosis of Bangstad syndrome has only been made in the case of two siblings in 1989. Therefore, any future diagnosis of this very rare disease can only be made if an individual experiences all of the described symptoms and physiological characteristics as these two siblings.

There are currently no known genetic factors that cause this rare disease, therefore no genetic tests yet exist to diagnose Bangstad syndrome. A series of tests for physiological characteristics and mental capabilities are conducted in comparison to the original case study of Bangstad syndrome in order to determine a diagnosis.

Since Bangstad syndrome is so rare and characterized by a multitude of symptoms, it is likely beneficial to treat this rare disease on an individual basis. Symptoms will likely be treated based on the most pressing issues and threats to longevity. If physical features and irregularities allow, surgery can be conducted to correct symptoms such as thyroid goiters and affected fingers. In other cases, hormone treatments may be necessary to replace the lack of thyroid or gonadal hormones. Hypothyroidism, arising when the thyroid cannot produce enough metabolism hormones to keep the body running normally, is treated with thyroxine or surgery. If an individual experiences seizures as a result of Bangstad syndrome, treatment of these seizures should be prioritized through the use of anti-epileptic drugs (AEDs). However, the long-term use of these anti-seizure drugs may affect how the body metabolizes and eliminates other drugs, and individuals undergoing these treatments should consult their doctor before pursuing surgery with the use of anesthetics.

Since there is only data available from one case study of two siblings, little is known about the lifelong effects of Bangstad syndrome. No information about the siblings extends past their ages at the time of study: 16 and 26. It was noted in the paper that while both siblings had limited mental abilities, they were both amiable and their most prominent symptom was ataxia, or lack of control of limbs and muscles. Due to the range of symptoms and treatments available for hormone supplements and seizure prevention, it is important to ask about the potential side effects or drug interactions that could cause illness. For example, proper levels of hormone production should be established before the use of anesthesia in surgery. Depending on the degree of facial abnormalities, it may be necessary to open the airway through surgery, and maintenance of ventilation is recommended until the airway allows for proper breathing.

Tips or Suggestions of Bangstad Syndrome has not been added yet.

1. Bangstad, H.-J., Beck-Nielsen, H., Hother-Nielsen, O., Nystad, R., Trygstad, O., Pedersen, O., Aagenaes, O. Primordial birdheaded nanism associated with progressive ataxia, early onset insulin resistant diabetes, goiter, and primary gonadal insufficiency. Acta Paediat. Scand. 78: 488-493, 1989

2. https://www.omim.org/entry/210740

3. https://rarediseases.oscar.ncsu.edu/disease/bangstad-syndrome/about/

4. https://accesspediatrics.mhmedical.com/content.aspx?bookid=2674&sectionid=220521941