A Case Study: Pregnancy and Symptomatic Huntington Disease

Although symptomatic HD patients are rarely encountered during pregnancy due to its late onset, the shift toward older maternal age means doctors will more likely encounter pregnant patients with HD. A search of the entire PubMed literature from January 1966 to August 2007 yielded 203 reports focusing mainly on prenatal diagnosis and counseling among healthy individuals at risk for HD. However, none of these reports focused on care issues relevant to our patient with a pregnancy complicated by advanced HD. This article therefore describes the illustrative complicated course of the patient, whom despite the complications, are able to deliver a successful birth with the support of relatives and hospital care.

Case study: Department of Obstetrics and Gynecology (University of Alabama at Birmingham)

A 31-year-old white female was referred at 25 weeks gestation due to unplanned pregnancy. She had a 5-year history of symptomatic HD and was under the care of a neurologist. She had deteriorated significantly over the preceding year, with impairment of communication, swallowing, ambulation and cognition. She had an uncomplicated term vaginal delivery 2 years prior to the diagnosis of HD. She was wheelchair bound with chorea, appeared malnourished, and was on oral liquid dietary. Nevertheless, fetal growth and anatomy were normal.

At 30 weeks, she was admitted in preterm labor but arrested at a cervical dilation of 4 cm after she received pre mature labor suppression drugs and steroids for pulmonary maturation. Due to her diabetes insipidus, she developed an intense thirst despite drinking large amount of fluids and excreting large amount of urine. As part of her symptoms, she also had acute renal failure, elevated sodium level in blood, a free water deficit and an abnormal increase in the osmolality of the body fluids. After she was treated with desmopressin (DDAVP), she had a positive response. After giving birth, the doctors failed to wean the patient off her DDAVP and she was kept on a maintenance dose.

As a result of intractable dysphagia or discomfort in swallowing, her nutritional status deteriorated, enternal feeding or delivery of a nutritionally complete food directly into her stomach, duodenum or jejunum was recommended. Managing tube feeds prove to be difficult because of recurrent tube dislodgment and the patient’s aspiration pneumonia. Percutaneous endoscopic gastrosomy (PEG), or an endoscopic medical procedure in which a tube is passed into a patient’s stomach through the abnormal wall, was used to provide a means of feeding. However, the PEG was unsuccessful due to the distortion of the patient’s stomach and her inability to maintain gastric distention. Hence, the medical team used computed tomography-guided placement of a Dobhoff tube. Antibiotics and total eternal feeding were also initiated.

The patient also developed kidney inflammation due to bacterial infection. Nevertheless, she responded to appropriate antibiotics. At 33 weeks, she developed an inflammation of the fetal membranes due to a bacterial infection and labor was induced. She received epidural anesthesia and spontaneously delivered a male infant with the Apgar scores for physical condition of 8 out of 10. Her central line was discontinued 1 day after she gave birth because of suspected site infection. The patient responded to a broad-spectrum of antibiotics and the PEG tube was successfully placed 5 days after she gave birth and enteral feeds resumed. She was discharged after 12 days after she gave birth. The infant was discharged in good health at 1 month of age.

Discussion

This patient highlights several issues important to pregnant women with impaired mental, autonomic and physical ability such as symptomatic HD patients. While involuntary movements are manageable, the patient’s difficulty in swallowing indicated terminal disease and significant risk for aspiration syndrome and death. Hence, counseling regarding pregnancy termination early in the pregnancy is reasonable. Although prenatal diagnosis is available, it is highly controversial, as termination of pregnancy is rare due to the late, adult-onset of the disease.

Although not applicable to the case study patient, preconception counseling, preimplantation genetic diagnosis could have reduced the risk of a HD affected offspring.

The challenges experienced with gastric tube placement in the patient made enteral feeding tube the only feasible option during pregnancy. Increased abdominal pressure, gastric deformation in pregnancy, sphincter and muscular dysfunction associated with HD, likely contributed to the risk for aspiration and the failed tube placement attempts.

Another challenge was the patient’s inability to communicate effectively, especially regarding painful contractions. Family support was also vital as they received education on examining contractions and assisted with nutrition, mobilization, and activities of daily living and decubitus ulcer prevention. Social work, nutrition and physical therapy services helped optimize this patient’s care.

Although there is no direct link between diabetes insipidus and HD, reports of reduced levels of hypothalamic neuropeptides in animal models of HD suggest an association. The episode of kidney inflammation may be related to the combination of pregnancy, restricted activity and muscular dysfunction of HD, which posed a higher risk for bacteria infection.

The successful result of the case study patient’s pregnancy was possible due to a multidisciplinary effort and strong family support.

Resources:

Hoskins, K. E., A. T N Tita, J. R. Biggio, and P. S. Ramsey. “Pregnancy and Active Huntington Disease: A Rare Combination.” Journal of Perinatology 28.2 (2008): 156-57. Web.

Kotliarova, Svetlana, Nihar R. Jana, Naoaki Sakamoto, Masaru Kurosawa, Haruko Miyazaki, Munenori Nekooki, Hiroshi Doi, Yoko Machida, Hon Kit Wong, Taishi Suzuki, Chiharu Uchikawa, Yuri Kotliarov, Kazuyo Uchida, Yoshiro Nagao, Utako Nagaoka, Akira Tamaoka, Kiyomitsu Oyanagi, Fumitaka Oyama, and Nobuyuki Nukina. “Decreased Expression of Hypothalamic Neuropeptides in Huntington Disease Transgenic Mice with Expanded Polyglutamine-EGFP Fluorescent Aggregates.” Journal of Neurochemistry 93.3 (2005): 641-53. Web.