MyPACS.net: Radiology Teaching Files > Case 50404233

Last visited 03-10-2011 8 YEAR OLD MALE WITH PRECOCIOUS PUBERTY
Contributed by: Faculty and residents Children's Hospital, Radiologist, Children's Health System, Birmingham, Alabama., USA.
Patient: 8 year old male
History: 8 year old male with history of precocious puberty.
Images:[small]larger

Fig. 1: Bone age study (performed when the patient was eight years old) demonstrated advanced bone age, greater than 9 standard deviations above the mean.

Fig. 2: CT head (performed when the patient was two years old) demonstrates a minimally heterogeneous suprasellar mass with absence of calcifications.

Fig. 3: MR Brain demonstrates a mass immediately inferior to the optic chiasm, continuous with the hypothalamus and mammillary bodies. This lesion is somewhat heterogenous in appearance, slightly hypointense on T1- and slightly hyperintense on T2-weighted images, without evidence of contrast enhancement.

Fig. 4: MR Brain demonstrates a mass immediately inferior to the optic chiasm, continuous with the hypothalamus and mammillary bodies. This lesion is somewhat heterogenous in appearance, slightly hypointense on T1- and slightly hyperintense on T2-weighted images, without evidence of contrast enhancement.

Fig. 5: MR Brain demonstrates a mass immediately inferior to the optic chiasm, continuous with the hypothalamus and mammillary bodies. This lesion is somewhat heterogenous in appearance, slightly hypointense on T1- and slightly hyperintense on T2-weighted images, without evidence of contrast enhancement.
Findings:

Bone age study (performed when the patient was eight years old) demonstrates advanced bone age, greater than 9 standard deviations above the mean. 

CT head (performed when the patient was two years old) demonstrates a minimally heterogeneous suprasellar mass with absence of calcifications. 

MR Brain demonstrates a mass immediately inferior to the optic chiasm, continuous with the hypothalamus and mammillary bodies.  This lesion is somewhat heterogeneous in appearance, slightly hypointense on T1- and slightly hyperintense on T2-weighted images, without evidence of contrast enhancement. 

Diagnosis: Hypothalamic Hamartoma
Discussion:

Terminology

  • Synonyms: Hamartoma of the tuber cinereum and Diencephalilc Hamartoma
  • Non-neoplastic congenital collection of heterotopic neurons and glia originating from the tuber cinereum (floor of 3rd ventricle), characterized clinically by luteinizing hormone-releasing hormone (LHRH) dependent central precocious puberty at a very young age and/or gelastic seizures

Imaging Findings

  • Best diagnostic clue: Small (typically ~1 cm), round, nonenhancing mass contiguous with tuber cinereum
  • Isointense or slightly hypointense to gray matter
  • T2WI: Iso or slightly ↑ signal intensity (occasionally ↑↑ due to fibrillary gliosis)
  • T1 C+: Nonenhancing (if enhances, look for other diagnosis)

Top Differential Diagnoses

  • Craniopharyngioma
  • Hypothalamic/Chiasmatic Astrocytoma
  • Suprasellar Germinoma
  • Langerhans Cell Histiocytosis

Pathology

  • Shape and size of lesion reported to predict symptoms.  Large sessile lesions are associated with seizures and small pedunculated lesions are associated with central precocious puberty. 
  • Of histologically verified lesions: 3/4 precocious puberty, 1/2 seizures
  • Found in up to 33% of patients with precocious puberty

Clinical Issues

  • Commonly presents with both seizures and precocious puberty. 
  • Usually presents between 1-3 years of age
  • No gender or ethnic predilection
  • Pallister-Hall Syndrome:
    • Hypothalamic Hamartoma
    • Digital Malformations (short metacarpals, syndactyly, polydactyly)
    • Additional midline (laryngeal, epiglottic) or cardiac/renal/anal anomalies

Treatment

  • Hormone Suppression Therapy (with luteinizing hormone receptor agonists) is successful in most patients.
  • Surgery is indicated for medically refractory cases or rapidly growing lesions.
References:

Arita, K., et al. "Hypothalamic Hamartoma." Neurol Med Chir (Tokyo). 2005 May;45(5):221-31.

Donnelly, LF. Fundamentals of Pediatric Radiology. 1st ed. Saunders, 2001.

Luma, M., et al. "Precocious puberty due to hypothalamic hamartoma." Pediatr Endocrinol Diabetes Metab. 2008;14(4):257-61.

https://my.statdx.com

http://pediatricradiology.ccf.org

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Additional Details:

Case Number: 50404233Last Updated: 03-10-2011
Anatomy: Cranium and Contents   Pathology: Congenital
Modality: CT, Conventional Radiograph, MRAccess Level: Readable by all users
Keywords: hypothalamic (tuber cinereum) hamartoma

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