Eur J Pediatr DOI 10.1007/s00431-013-2175-4
CASE REPORT
A rare cause of short stature: transsphenoidal encephalocele Özhan Bayram & Ağladıoğlu Yılmaz Sebahat & Ağladıoğlu Kadir & Koçyiğit Ali
Received: 7 September 2013 / Accepted: 1 October 2013 # Springer-Verlag Berlin Heidelberg 2013
Abstract Basal encephaloceles are rare, accounting for about 1.5 % of all encephaloceles. Transsphenoidal encephaloceles represent less than 5 % of basal encephaloceles. Respiratory and feeding difficulties due to mass effect in the oral or nasal cavity and episodes of recurrent meningitis are the main clinical features. Diagnosis is established in the first year of life, but without characteristic facies, the diagnosis can be delayed to adolescence or adulthood. We report the case of a 10-year-old boy who presented with short stature and eventually was diagnosed with a growth hormone deficiency because of mass effect of transsphenoidal encephalocele. Unusual presentation of an encephalocele as a short stature is described.
Keywords Transsphenoidalencephalocele . Growth hormone deficiency . Short stature
Ö. Bayram : A. Y. Sebahat Division of Pediatric Endocrinology, School of Medicine, Pamukkale University, Denizli, Turkey A. Y. Sebahat e-mail: [email protected] A. Kadir : K. Ali Division of Radiology, School of Medicine, Pamukkale University, Denizli, Turkey A. Kadir e-mail: [email protected] K. Ali e-mail: [email protected] Ö. Bayram (*) Çocuk Endokrinoloji Polikliniği Kınıklı, Pamukkale Universitesi Tıp Fakültesi Hastanesi, Kınıklı, Denizli, Turkey e-mail: [email protected]
Introduction An encephalocele is a protrusion of the cranial contents through a defect in the skull. It is called a meningocele, meningoencephalocele, or meningoencephalocystocele if the mass contains meninges, meninges and brain, or meninges, brain, and ventricle, respectively [1]. The encephaloceles are classified according to the site of origin to occipital, sincipital, nasofrontal, nasoethmoidal, naso-orbital and basal, sphenoorbital, sphenomaxillary, transethmoidal, sphenoethmoidal, transsphenoidal, or basioccipital cephaloceles [2]. Transsphenoidal encephaloceles represent less than 5 % of basal encephaloceles and have an estimated incidence of 1 in 700,000 live births. They can occur through a defect in the sella traversing the floor of sphenoid sinus and protruding into the nasal cavity and nasopharynx. Manifestations of disease can be seen from the newborn period to adulthood. We report the case of a patient who presented with short stature and subsequently was found to have growth hormone deficiency due to transsphenoidal encephalocele.
Case report A 10-year-old boy was admitted for short stature. His height had first been recognized as deficient 6 years earlier. The parents thought the child would catch up to his peers, so he was not brought to medical attention. The patient was born to nonconsanguineous parents after an uneventful second pregnancy at full term. His past medical history was unremarkable. The mother measured at 165 cm (0.32 standard deviation score (SDS)), and the father, 170 cm (−1.0 SDS). A target height of 174 cm (−0.49 SDS) was calculated based on these parental heights. On his physical examination, his height was 137.5 cm (−3.36 SDS), weight was 46.8 kg (−0.8 SDS), and bone age was 10 years old. No axillary or pubic hair was
Eur J Pediatr
present. His Tanner stages were G1 and P1, and each of his testes was 3 ml in volume. On his laboratory examinations, liver function and kidney function tests were within normal limits. Celiac antibodies were negative. Insulin-like growth factor-1 (IGF-1) was 26.5 μg/ml (−2.46 SDS), and insulin-like growth factor binding protein-3 (IGFBP-3) was 1.89 μg/ml (−2.85 SDS). His free thyroxine level was 0.8 ng/dl (0.8–2.2), and TSH level was 0.952 μIU/ml (0.51–4.30). His ACTH, cortisol, and prolactin levels were 50 pg/ml (10–60), 5.92 μg/ dl (3–21), and 8.46 ng/ml (4.04–15.2), respectively. LH, FSH, and testosterone levels were in prepubertal limits. During follow-up, his height velocity was found to be 0.72 cm/year (−8.09 SDS). Growth hormone (GH) stimulation tests were performed, resulting in a blunted GH peak response during clonidine and L -DOPA stimulation tests (0.054 and
CASE REPORT
A rare cause of short stature: transsphenoidal encephalocele Özhan Bayram & Ağladıoğlu Yılmaz Sebahat & Ağladıoğlu Kadir & Koçyiğit Ali
Received: 7 September 2013 / Accepted: 1 October 2013 # Springer-Verlag Berlin Heidelberg 2013
Abstract Basal encephaloceles are rare, accounting for about 1.5 % of all encephaloceles. Transsphenoidal encephaloceles represent less than 5 % of basal encephaloceles. Respiratory and feeding difficulties due to mass effect in the oral or nasal cavity and episodes of recurrent meningitis are the main clinical features. Diagnosis is established in the first year of life, but without characteristic facies, the diagnosis can be delayed to adolescence or adulthood. We report the case of a 10-year-old boy who presented with short stature and eventually was diagnosed with a growth hormone deficiency because of mass effect of transsphenoidal encephalocele. Unusual presentation of an encephalocele as a short stature is described.
Keywords Transsphenoidalencephalocele . Growth hormone deficiency . Short stature
Ö. Bayram : A. Y. Sebahat Division of Pediatric Endocrinology, School of Medicine, Pamukkale University, Denizli, Turkey A. Y. Sebahat e-mail: [email protected] A. Kadir : K. Ali Division of Radiology, School of Medicine, Pamukkale University, Denizli, Turkey A. Kadir e-mail: [email protected] K. Ali e-mail: [email protected] Ö. Bayram (*) Çocuk Endokrinoloji Polikliniği Kınıklı, Pamukkale Universitesi Tıp Fakültesi Hastanesi, Kınıklı, Denizli, Turkey e-mail: [email protected]
Introduction An encephalocele is a protrusion of the cranial contents through a defect in the skull. It is called a meningocele, meningoencephalocele, or meningoencephalocystocele if the mass contains meninges, meninges and brain, or meninges, brain, and ventricle, respectively [1]. The encephaloceles are classified according to the site of origin to occipital, sincipital, nasofrontal, nasoethmoidal, naso-orbital and basal, sphenoorbital, sphenomaxillary, transethmoidal, sphenoethmoidal, transsphenoidal, or basioccipital cephaloceles [2]. Transsphenoidal encephaloceles represent less than 5 % of basal encephaloceles and have an estimated incidence of 1 in 700,000 live births. They can occur through a defect in the sella traversing the floor of sphenoid sinus and protruding into the nasal cavity and nasopharynx. Manifestations of disease can be seen from the newborn period to adulthood. We report the case of a patient who presented with short stature and subsequently was found to have growth hormone deficiency due to transsphenoidal encephalocele.
Case report A 10-year-old boy was admitted for short stature. His height had first been recognized as deficient 6 years earlier. The parents thought the child would catch up to his peers, so he was not brought to medical attention. The patient was born to nonconsanguineous parents after an uneventful second pregnancy at full term. His past medical history was unremarkable. The mother measured at 165 cm (0.32 standard deviation score (SDS)), and the father, 170 cm (−1.0 SDS). A target height of 174 cm (−0.49 SDS) was calculated based on these parental heights. On his physical examination, his height was 137.5 cm (−3.36 SDS), weight was 46.8 kg (−0.8 SDS), and bone age was 10 years old. No axillary or pubic hair was
Eur J Pediatr
present. His Tanner stages were G1 and P1, and each of his testes was 3 ml in volume. On his laboratory examinations, liver function and kidney function tests were within normal limits. Celiac antibodies were negative. Insulin-like growth factor-1 (IGF-1) was 26.5 μg/ml (−2.46 SDS), and insulin-like growth factor binding protein-3 (IGFBP-3) was 1.89 μg/ml (−2.85 SDS). His free thyroxine level was 0.8 ng/dl (0.8–2.2), and TSH level was 0.952 μIU/ml (0.51–4.30). His ACTH, cortisol, and prolactin levels were 50 pg/ml (10–60), 5.92 μg/ dl (3–21), and 8.46 ng/ml (4.04–15.2), respectively. LH, FSH, and testosterone levels were in prepubertal limits. During follow-up, his height velocity was found to be 0.72 cm/year (−8.09 SDS). Growth hormone (GH) stimulation tests were performed, resulting in a blunted GH peak response during clonidine and L -DOPA stimulation tests (0.054 and
