Edition 61 - 2016, December / Images

Images in Pediatric Endocrinology: POSTAXIAL POLYDACTILY – Ed. 61

Paulón Yamila, Costanzo Mariana, Di Palma M.Isabel

Servicio de Crecimiento y Desarrollo. Hospital de Pediatría Juan. P Garrahan, Buenos Aires, Argentina

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Description: Left hand and wrist x-ray for the evaluation of bone age: Bone structure and density without alterations Chronological age 15.7 years. Bone age 14 years. Full postaxial polydactyly (arrow) associated with hypoplasia of the distal and middle phalanxes of the 2nd, 3rd, 4th, 5th and 6th fingers is visualized, Supernumerary bones are visualized in relation to fifth and distal fifth phalanx (arrowhead). The wrist does not present any alterations. No injuries are observed in soft tissues.

 

CLINICAL CASE

The patient was referred to our hospital at one month of life  because of meconium ileus (secondary to megacolon) and failure to thrive.The patient was born full-term, with adequate birth weight (3150g),and was the first child of not blood related parents. Pregnancy was uncontrolled.  After vaginal delivery the baby was admitted because of acute fetal distress and meconial aspiration. During the first week of life the baby was re-admitted at the neonatology unit due to E Coli urinary tract infection and a megacolon was detected on ultrasound. Physical examination on admission at one month of life revealed length 51 cm (-1.37SD),  weight 2980 (-2.2 SD), rounded face, micrognatia, mammary hypertelorism, bilateral post-axial polydactyly with syndactyly, hypoplasic nails, anterior anus, abdominal distention and failure to thrive.Fourteen days after admission the baby presented spontaneous asymptomatic hypoglycemia, with insufficient growth hormone (GH) response (glycemia 29 mg/dl GH 0.89 ng/ml, cutt off  10 ng/ml). Studies requested to assess pituitary function confirm GH deficiency (peak  4.5 ng/ml Test Arginin)and revealed central hypothyroidism (TSH 4.49 mUI/ml, T4 5.7 mcg/ml, T4l 0.74 ng/ml T31 ng/dl) with normal cortisol/ACTH levels. Colonic biopsy was positive for Hirshprung disease.The association of polydactily, Hirshprung disease and hypopituitarism suggested Pallister Hall Syndrome. Endoscopic evaluation found  tracheal stenosis with bifida epiglottis and cerebral  MRI showed a large hypothalamic hamartoma. These studies confirm the presumptive diagnosis.The patient is now 15.7 years old. Follow-up was extremely irregular due to social and familial difficulties that prevented an appropriate treatment. Physical examination: Weight 34.3 kg (-2.83 SDS) , height 136.1 (-3.09 SDS), euthyroid, uncorrected polydactyly, Tanner stage: B4 PH3. Left hand and wrist x-Ray showed a bone maturation corresponding to 14 years, complete post-axial polydactily associated hypoplasia of the distal phalanx of the 2nd, 3rd, 4th, 5th and 6th fingers is visualized, as well as the middle phalanx of the 2nd, 3rd , 4 ° and 5 °. Supernumerary bones are visualized in relation to fifth and distal fifth phalanxFamily history: she has 7 siblings, two of them are also affected (aged 13 and 5 years) and presented neonatal hypoglycemia and polydactyly. Both had been studied in the neonatal period confirming the presence of growth hormone deficiency and a hypothalamic hamartoma.

COMMENTS

Pallister-Hall (PH) syndrome is characterized by a spectrum of abnormalities that include the presence of mesoaxial or post-axial polydactyly and hypothalamic hamartoma as diagnostic criteria, along with laryngotracheal abnormalities (the most characteristic is the presence of bifid epiglottis), imperforate anus, renal anomalies (cystic malformations, hypoplasia, etc.), pulmonary segmentation anomalies and non-polydactyly skeletal anomalies. The diagnostic criteria for PH require the presence of a hypothalamic hamartoma and insertional polydactyly in the proband or isolated hamartoma or polydactyly in an index case´s relative. Individuals with PH can have pituitary deficiency and may die as neonates from undiagnosed and untreated hormonal deficiencies. 
This syndrome has been associated with mutations in the GLI3 gene; it is inherited in an autosomal dominant manner. GLI2 mutations also present with polidactyly and hypopituitarism, but  are usually associated with middle line anomalies due to brain development defects.

In this family we suspect that the defect was inherited from a parent that has a very subtle clinical picture, the reason why it has gone unnoticed.

References:

1: Biesecker LG. Pallister-Hall Syndrome. 2000 May 25 [updated 2010 Jun 15]. In: Pagon RA, Bird TD, Dolan CR, Stephens K, editors. Gene Reviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. Available from http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=phs PubMed PMID: 20301638.

2: Hill P, Wang B, Rüther U. The molecular basis of Pallister Hall associated polydactyly. Hum Mol Genet. 2007 Sep 1;16(17):2089-96. Epub 2007 Jun 22. PubMed PMID: 17588959.

3: Johnston JJ, Sapp JC, Turner JT, et al.  Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations. Hum Mutat. 2010 Oct;31(10):1142-54. PubMed PMID: 20672375; PubMed Central PMCID: PMC2947617.


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