Familial pallister‐hall syndrome: Case report and hormonal evaluation

Sills, Irene N.; Rapaport, Robert; Robinson, Linda; Leiber, C S; Shih, Lisa B.; Horlick, Mary; Schwartz, Malcolm; Desposito, Franklin

doi:10.1002/ajmg.1320470305

Cited by 26 publications

(13 citation statements)

References 16 publications

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“…Sills et al, [1993] reported a familial case of Pallister-Hall syndrome, with a hypothalamic mass and apparent absence of the pituitary gland on MRI. Dynamic hormonal testing documented a deficiency of TSH, ACTH, prolactin and GH, most compatible with a deficiency of hypothalamic releasing factors.…”

Section: Discussionmentioning

confidence: 98%

Hypothalamic hamartoma in oral‐facial‐digital syndrome type VI (Váradi syndrome)

et al. 1994

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Oral-facial-digital syndrome (OFDS) type VI (Váradi syndrome) is an autosomal recessive trait of orofacial anomalies, cerebellar dysgenesis, and polysyndactyly. Developmental anomalies of the posterior fossa, including cerebellar hypoplasia and variants of the Dandy-Walker complex, are the most common central nervous system malformations reported in patients with this syndrome. We report hypothalamic hamartoma, supernumerary maxillary incisor, and precocious puberty in a boy with OFDS type VI. We propose that hypothalamic hamartoma is an occasional manifestation of OFDS type VI.

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Section: Discussionmentioning

confidence: 98%

Hypothalamic hamartoma in oral‐facial‐digital syndrome type VI (Váradi syndrome)

et al. 1994

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“…Our patient had high free T4 with normal TSH, suggesting the activation of the hypothalamic-pituitary-thyroid axis. Nineteen postmortem cases were studied, which showed nine cases with absent pituitary gland, seven cases with hypoplastic thyroid gland, and ten cases with hypoplastic adrenal gland 4 . However, close follow up was required.…”

Section: Discussionmentioning

confidence: 99%

Pallister-Hall Syndrome with Hypoparathyroidism

Wacharasindhu

Shotelersuk²,

Srivuthana³

et al. 2004

Journal of Pediatric Endocrinology and Metabolism

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We report on a 5 2/12 year-old boy who presented with convulsions, precocious puberty due to a 1.9 x 1.9 x 1.6 hypothalamic hamartoma of the tuber cinereum, and some dysmorphic features including polysyndactyly of hands and feet, suggesting the diagnosis of Pallister-Hall syndrome. Hypocalcemia due to hypoparathyroidism was demonstrated, and this combination has not been reported previously. Therefore, we can add hypoparathyroidism as another feature of Pallister-Hall syndrome.

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“…Besides anomalies of nose or ears, cleft palate, anomalies of the hand except polydactyly, renal dysplasia, micropenis, testicular hypoplasia, and imperforate anus are the symptoms most often recognized (1). PallisterHall syndrome was described first in 1980 by Hall JG et al (2,3), and many cases have been reported (4,5). The causative gene was elucidated by Kang S et al (6).…”

Section: Discussionmentioning

confidence: 99%

An Infant Case of Pallister-Hall Syndrome Treated with Hormone Replacement.

Shimizu

Shimazaki

Tooyama

et al. 2002

Clin Pediatr Endocrinol

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Abstract. Pallister-Hall syndrome was first described by Hall et al. in 1980. This syndrome is characterized by hypothalamic hamartoblastoma, hypopituitarism, polydactyly, imperforate anus and other anomalies. We report a case of a male infant with hypothalamic tumor, hypopituitarism, dysplastic metacarpals, micropenis and remarkable hypoglycemia. He has been treated with hydrocortisone, thyroid hormone, NaCl, fludrocortisone acetate and GH. He has grown well on this therapy. Key words:Pallister-Hall syndrome, hypothalamic hamartoblastoma, hypopituitarism, dysplastic metacarpals, micropenis Case ReportA male infant was born normally after 40 weeks gestation with birth weight 3298 g, length 51.0 cm, and head circumference 35.0 cm. He was the second child of unrelated parents. At birth he was noted to have micropenis. After observation for several hours, cyanosis became apparent, and he was transferred to our hospital. On admission his vital signs were temperature 36.4°C, pulse rate 167/min, respiration rate 58/min, blood pressure 38/20 mmHg and SpO 2 90%. He was in impending shock. The results of blood gas analysis on admission (venous blood) were as follows; pH 7.112, PCO 2 85.6 mmHg, BE -2 mmol/L, HCO 3 27 mmol/L. Furthermore his blood sugar level was 1 mg/dl. The pr esen ce of microp enis a nd remarkable hypoglycemia suggested pituitary hormone deficiencies, and he was treated with intravenously administered hydrocortisone sodium phosphate immediately. The results of endocrin ologi cal examin ati on indi cate d hypopituitarism (Table 1). Other congenital anomalies were noted including flat nasal bridge, bifid scrotum, and stoppage spermary. Head MRI documented a hypothalamic mass. He was transferred to the Children's Hospital of Nagano at age 2.5 months for further evaluation. X-rays of the left hand showed four metacarpals, and adhesion of the third and the fourth metacarpus was recognized. X-ray of both hands at six months is shown in Fig. 1. Heart deformity was not noticed in UCG, and abnormalities of abdominal organ, kidney and bladder were not found. Head MRI showed the absence of the anterior pituitary gland and a hypothalamic mass lesion. The tumor was 3 cm in diameter and was recognized in the suprasellar area. It showed a signal like normal b ra i n s u b s t a n t i a a l b a w i t h o u t c o n t ra s t

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Familial pallister‐hall syndrome: Case report and hormonal evaluation

Cited by 26 publications

References 16 publications

Hypothalamic hamartoma in oral‐facial‐digital syndrome type VI (Váradi syndrome)

Hypothalamic hamartoma in oral‐facial‐digital syndrome type VI (Váradi syndrome)

Pallister-Hall Syndrome with Hypoparathyroidism

An Infant Case of Pallister-Hall Syndrome Treated with Hormone Replacement.

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