Pallister-Hall Syndrome (GLI3)


Clinical Features

Pallister-Hall Syndrome (PHS) is characterized by postaxial polydactyly and hypothalamic hamartoma (Johnston et al., Human Mutation. 2010; 31(10): 1142-1154). Additional features include gelastic seizures, small nails, imperforate anus, bifid epiglottis and laryngotracheal clefts. PHS patients may have pituitary insufficiency which can result in death from adrenal insufficiency. Symptoms are variable in appearance and severity. Inter-familial variability has been reported to be much greater than intra-familial variability.

Prevention

Managing clinical symptoms is critical for patients with Pallister-Hall Syndrome (Kuo et al., American Journal of Neurology. 1999; 20: 1839-1841).

Identification and Treatment of Endocrine Abnormalities

Studies on children diagnosed with PHS have shown that administering growth hormone therapy at a young age was successful in achieving normal height (Galasso et al., American Journal of Medical Genetics. 2001; 99(2): 128-131). Urgent treatment for endocrine abnormalities for PHS patients is highly recommended to prevent mortality (Biesecker, L., GeneReviews. 2000;ncbi.nlm.nih.gov/books/NBK1465).

Anesthetic Management

A renal ultrasonography should be performed prior to surgery to detect anomalies and perioperative potassium levels should be carefully monitored to prevent complications (Riutort et al., Jurnaiul Foman de Anestezie Terapie Intensiva. 2009; 16(1): 71-74). Medications that are excreted renally should be administered with caution as renal malformations are common in patients with PHS (Riutort et al., Jurnaiul Foman de Anestezie Terapie Intensiva. 2009; 16(1): 71-74).

Preventing Seizures

Brain anomalies are present in GLI3 patients so Attention Deficient medications should be avoided as they have been shown to cause seizures in affected individuals (Biesecker, L., GeneReviews. 2000; ncbi.nlm.nih.gov/books/NBK1465).

Airway Management

Choking during feeding, chronic aspiration, episodes of stridor and respiratory distress are prevalent in PHS making proper airway management important in improving patients' quality of life. Airway malformations make treatment difficult, but diagnosis of PHS would give physicians early notice to perform individual screening and opt for tracheal intubation to avoid further complications caused by other methods (Riutort et al., Jurnaiul Foman de Anestezie Terapie Intensiva. 2009; 16(1): 71-74).

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Disclaimer

This article is a summary of information that has been reported in the biomedical research literature. It is not medical advice for patients. All disease treatments should be under the direction of a qualified healthcare provider.