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The strictly third ventricle craniopharyngioma topography (strictly 3V CP) defines the subgroup of lesions developed above an anatomically intact third ventricle floor (3VF). The true existence of this exceedingly rare topographical category is highly controversial owing to the presumed embryological CP origin from Rathke’s pouch, a structure developmentally situated outside the neural tube. This study thoroughly analyzes the largest series of strictly 3V CPs ever collected. From 5346 CP reports published between 1887 and 2021, we selected 245 cases with reliable pathological, surgical, and/or neuroradiological verification of an intact 3VF beneath the tumor. This specific topography occurs predominantly in adult (92.6%), male (64.4%) patients presenting with headache (69.2%), and psychiatric disturbances (59.2%). Neuroradiological features defining strictly 3V CPs are a tumor-free chiasmatic cistern (95.9%), an entirely visible pituitary stalk (86.4%), and the hypothalamus positioned around the tumor’s lower pole (92.6%). Most are squamous papillary (82%), showing low-risk severity adhesions to the hypothalamus (74.2%). The adamantinomatous variant, however, associates a higher risk of severe hypothalamic adhesion (p

IntroductionMagnetic Resonance Imaging (MRI) is the best approach to investigate the hypothalamic-pituitary region in children with central precocious puberty (CPP). Routine scanning is controversial in girls aged 6-8 year, due to the overwhelming prevalence of idiopathic forms and unrelated incidentalomas. Cerebral lipomas are rare and accidental findings, not usually expected in CPP. We report a girl with CPP and an unusually shaped posterior pituitary gland on SE-T1w sequences.Case DescriptionA 7.3-year-old female was referred for breast development started at age 7. Her past medical history and physical examination were unremarkable, apart from the Tanner stage 2 breast. X-ray of the left-hand revealed a bone age 2-years ahead of her chronological age, projecting her adult height prognosis below the mid parental height. LHRH test and pelvic ultrasound were suggestive for CPP. Routine brain MRI sequences, SE T1w and TSE T2w, showed the posterior pituitary bright spot increased in size and stretched upward. The finding was considered as an anatomical variant, in an otherwise normal brain imaging. Patient was started on treatment with GnRH analogue. At a thorough revaluation, imaging overlap with adipose tissue was suspected and a new MRI scan with 3D-fat-suppression T1w-VIBE sequences demonstrated a lipoma of the tuber cinereum, bordering a perfectly normal neurohypophysis. 3D-T2w-SPACE sequences, acquired at first MRI scan, would have provided a more correct interpretation if rightly considered.ConclusionThis is the first evidence, to our knowledge, of a cerebral lipoma mimicking pituitary gland abnormalities. Our experience highlights the importance of considering suprasellar lipomas in the MRI investigation of children with CPP, despite their rarity, should the T1w sequences show an unexpected pituitary shape. 3D-T2w SPACE sequences could be integrated into standard ones, especially when performing MRI routinely, to avoid potential misinterpretations.

Highlights • A patient exhibited IgG4-related hypothalamo-hypophysitis. • Prominent high-signal areas of swelling were observed in the hypothalamus, tuber cinereum, infundibulum, and bilateral optic nerve systems. • MRI T1WI with contrast media demonstrated enhanced neurohypophysis and cystic swelling, and compressed anterior pituitary. • MRI findings improved rapidly after 4 days of steroid therapy.

Hypothalamic hamartoma (HH) is a rare, congenital, and benign lesion of the tuber cinereum, typically presenting with central precocious puberty (CPP), gelastic seizure, and developmental delay. This study aimed to investigate CPP in HH patients and compare clinical features between before and after gonadotropin-releasing hormone (GnRH) agonist treatment. A total of 30 HH patients under 18 years of age who visited Severance Children’s Hospital between January 2005 and May 2020 were retrospectively reviewed. Fourteen patients were male (46.7%) and sixteen (53.3%) were female, with a mean age at diagnosis was4.2 ± 2.9 years. During follow-up, 24 patients (80.0%) were diagnosed with CPP, 15 patients (50.0%) had gelastic seizure, and 13 patients (43.3%) had developmental delay. The gelastic seizure was significantly associated with sessile type HH rather than pedunculated type HH (85.7% vs. 18.8%, p = 0.001). After GnRH agonist treatment, discrepancies between bone age and chronological age decreased (3.3 ± 1.3 years to 2.0 ± 1.7 years, p = 0.002). Additionally, height standard deviation score for bone age was increased, and predicted adult height increased significantly in females, while males showed an increasing trend. Clinical symptoms of HH were closely associated with the location of HH, and GnRH agonist treatment was safe and effective in the management of CPP caused by HH.

Introduction Evidence exists for the role of the hypothalamic hamartoma’s topography as a determinant for the clinical presentation. How the hamartoma relation to the hypothalamic structures can make clinical presentations, severity and surgery outcomes different from patient to patient is largely unknown. Our aim was to analyze the effect of fine anatomical topography on clinical spectrum and radiosurgery outcome. Methods Forty-eight epileptic patients with hypothalamic hamartoma were treated by Gamma Knife Surgery and were reviewed for fine topography and morphology using magnetic resonance neuroimaging. We evaluated different topographic patterns; contact to prominent structures (the mammillary body, tuber cinereum and pituitary stalk), the degree of involvement within sagittally-oriented regions, (mammillary, tuberal, and supra optic) coronally-oriented zones (periventricular, medial, and lateral), lesion dimensions (length, width, and height),and volumes (total, intra-hypothalamic, and extra-hypothalamic volumes). This data were statistically analysed for correlation with all clinical variables and epilepsy surgery outcome. We reviewed all the classification protocols in the literature. Results Focal onset impaired awareness seizures started at an earlier age of onset with larger hypothalamic hamartoma volume and dimensions. Lateral extension within the hypothalamus was associated with more severe epilepsy, higher seizure frequency, more severe psychiatric comorbidity, hetero-aggression, hyperkinesia, and school difficulties. Presence of precocious puberty was positively correlated to anterior-posterior extension; tuberal region involvement, hypothalamic hamartoma volume, and type III-VI. Larger hypothalamic hamartoma presented precocious puberty at an earlier age of onset. After Gamma Knife Surgery, epilepsy outcome was better and rapid when lesion is smaller. Post-radiosurgical transient increased seizures were present when the mammillary region was more involved. Conclusion Clinical presentation of epileptic hypothalamic hamartoma is significantly affected by fine topography patterns and invaded hypothalamic areas. Gamma Knife Radiosurgery effect is better and rapid in smaller hamartoma (Type I-III) and seizure outcome was not affected by the invaded hypothalamic areas.

Hypothalamic hamartomas (HH) are rare, non-neoplastic heterotopic tissues which contains normal neurons and glia including oligodendrocytes and fibrillary astrocytes but in an abnormal distribution. They arise from the floor of the third ventricle, tuber cinereum, or mammillary bodies. Estimated incidence ranges from 1 in 50,000-1 in 1,000,000. Hypothalamic hamartomas are associated with different clinical presentations including various types of seizures, most characteristically; the gelastic seizures, precocious puberty, cognitive impairment, and behavioral changes. In this review, the authors discuss advancements in different diagnostic elements of hypothalamic hamartoma; including clinical features, EEG findings, and neuroimaging techniques. Moreover, different classifications described in the literature will be discussed.

The transventricular endoscopic approach is an effective less invasive method for the management of symptomatic intrasellar arachnoid cysts in adults. The open area of the brain tissue defect in the infundibular recess caused by the upward compression of the cyst is a common target site for fenestration from the third ventricle. This report highlighted an alternative approach through the tuber cinereum (denoted as "trans-tuberal"), which enabled the treatment of symptomatic cases with a small opening for cyst fenestration in the infundibular recess.

Introdução: Certamente um dos elementos mais importantes para o sucesso de intervenções endoscópicas no sistema ventricular é a habilidade do neurocirurgião em reconhecer as estruturas anatômicas e utilizar essa informação para orientação. Material e Métodos: A literatura sobre o tema é revisada, focalizando nas referências anatômicas importantes para a terceiro ventriculostomia, no ventrículo lateral: forame de Monro, plexo coróide, veia septal, veia tálamo-estriada. Dentro do terceiro ventrículo os seguintes reparos anatômicos são importantes: corpos mamilares, tuber cinéreo e infundíbulo.Resultados: Uma das principais estruturas para orientação no corno frontal do ventrículo lateral é o plexo coróide. O assoalho do terceiro ventrículo tem importante relação cirúrgica com o ápex da artéria basilar, cujo rompimento é uma das piores complicações da terceiro ventriculostomia. Nas paredes laterais do terceiro ventrículo estão importantes grupos nucleares hipotalâmicos, principalmente o núcleo arqueado e paraventricular. Além disso, a fenestração deve ser sempre realizada na linha média, pois uma fenestração lateral pode danificar o terceiro nervo craniano ou artérias pré-mamilares, resultando em isquemia talâmica ou hipotalâmica. Conclusão: Entender a microanatomia das estruturas neurais e vasculares nos ventrículos laterais e terceiro ventrículo para a realização de terceiro ventriculostomia é essencial para melhorar os resultados cirúrgicos, evitando complicações.

Background Tuberous sclerosis complex (TSC) is a rare genetic disorder with multisystem involvement. A magnetic-resonance (MRI) based classification of tubers into types A, B and C has been proposed. However, the relationship between different tuber types and their quantitative characteristics, also the non-neurological manifestations of TSC remains unknown. Aims To quantitatively evaluate different MRI-defined tuber types and to explore their relationships with major disease manifestations in patients with tuberous sclerosis complex. Methods We performed quantitative manual assessment of tubers visible on T1W, T2W/FLAIR images and DW/ADC maps of 20 patients with TSC. Tubers were classified into types A, B and C based on their signal intensity on MRI. General clinical information and quantitative tuber characteristics were evaluated. Between-group comparisons were made using the nonparametric Mann-Whitney U test with Bonferroni correction. Results In total, 20 patients with 770 tubers were evaluated. Type A tubers were most numerous followed closely by Type B tubers, whereas Type C tubers were relatively rare. Tuber size was markedly different among the three tuber types: it increased from Type A to Type B to Type C. Infantile spasms, generalized-tonic clonic seizures, poor seizure control, cardiac rhabdomyomas, SEGA and developmental delay were not associated with quantitative tuber characteristics. Increased total Type B tuber load was associated with early onset epilepsy, while individually larger Type A and Type B tubers were associated with the presence angiomyolipoma (AML) and renal cysts. Conclusions MRI-defined tuber types differ significantly in their size and number. Larger total Type B tuber load and larger individual Type A and Type B tubers were found to be most associated with early seizure onset and renal angiomyolipomas, respectively. One possible explanation for the observed differences in the clinical phenotype based on MRI-defined tuber types is not the intrinsic qualitative distinctions between different tuber types, but rather their individual size and total tuber load.

Ipilimumab, a human monoclonal antibody against cytotoxic T-lymphocyte antigen 4, was approved by the U.S. FDA (Food and Drug Administration) in 2011 for the treatment of unresectable or metastatic malignant melanoma. Occurrence of hypophysitis, an immune-related adverse event due to ipilimumab use, has been frequently reported. We report a case of ipilimumab-induced hypophysitis involving the optic tracts and tuber cinereum, identified using 3D fluid-attenuated inversion recovery.

OBJECTIVEAccess to the third ventricle is a veritable challenge to neurosurgeons. In this context, anatomical and morphometric studies are useful for establishing the limitations and advantages of a particular surgical approach. The transchoroidal approach is versatile and provides adequate exposure of the middle and posterior regions of the third ventricle. However, the fornix column limits the exposure of the anterior region of the third ventricle. There is evidence that the unilateral section of the fornix column has little effect on cognitive function. This study compared the anatomical exposure afforded by the transforniceal-transchoroidal approach with that of the transchoroidal approach. In addition, a morphometric evaluation of structures that are relevant to and common in the 2 approaches was performed.METHODSThe anatomical exposure provided by the transcallosal-transchoroidal and transcallosal-transforniceal-transchoroidal approaches was compared in 8 fresh cadavers, using a neuronavigation system. The working area, microsurgical exposure area, and angular exposure on the longitudinal and transversal planes of 2 anatomical targets (tuber cinereum and cerebral aqueduct) were compared. Additionally, the thickness of the right frontal lobe parenchyma, thickness of the corpus callosum trunk, and longitudinal diameter of the interventricular foramen were measured. The values obtained were submitted to statistical analysis using the Wilcoxon test.RESULTSIn the quantitative evaluation, compared with the transchoroidal approach, the transforniceal-transchoroidal approach provided a greater mean working area (transforniceal-transchoroidal 150 ± 11 mm2; transchoroidal 121 ± 8 mm2; p < 0.05), larger mean microsurgical exposure area (transforniceal-transchoroidal 101 ± 9 mm2; transchoroidal 80 ± 5 mm2; p < 0.05), larger mean angular exposure area on the longitudinal plane for the tuber cinereum (transforniceal-transchoroidal 71° ± 7°; transchoroidal 64° ± 6°; p < 0.05), and larger mean angular exposure area on the longitudinal plane for the cerebral aqueduct (transforniceal-transchoroidal 62° ± 6°; transchoroidal 55° ± 5°; p < 0.05). No differences were observed in angular exposure along the transverse axis for either anatomical target (tuber cinereum and cerebral aqueduct; p > 0.05). The mean thickness of the right frontal lobe parenchyma was 35 ± 3 mm, the mean thickness of the corpus callosum trunk was 10 ± 1 mm, and the mean longitudinal diameter of the interventricular foramen was 4.6 ± 0.4 mm. In the qualitative assessment, it was noted that the transforniceal-transchoroidal approach led to greater exposure of the third ventricle anterior region structures. There was no difference between approaches in the exposure of the structures of the middle and posterior region.CONCLUSIONSThe transforniceal-transchoroidal approach provides greater surgical exposure of the third ventricle anterior region than that offered by the transchoroidal approach. In the population studied, morphometric analysis established mean values for anatomical structures common to both approaches.

Accurate knowledge of ventricular endoscopic anatomy is of paramount importance to the success of endoscopic neurosurgery. The lateral ventricles are the entrance door to the ventricular system, and from its opening, the foramen of Monro, the third ventricle is reached. In this complex cavity, the detailed knowledge of the anterior segment and its structures and recesses is of crucial importance for the performance of the endoscopic third ventriculostomy.

Patients with X-linked deafness carry mutations in the POU3F4 gene and have pathognomonic inner ear malformations characterised by symmetrical incomplete partition type 3 (absent modiolus and lamina spiralis but preserved interscalar septum in a normal-sized cochlea) and large internal auditory meatus (IAM) with an increased risk of gusher during stapes surgery. We describe a range of fairly characteristic malformations in the hypothalamus of some patients with this rare condition, ranging from subtle asymmetric appearance and thickening of the tuber cinereum to more marked hypothalamic enlargement. We discuss the role of POU3F4 in the normal development of both the inner ear and hypothalamus and the proposed pathophysiology of incomplete partition type 3.

Aim To evaluate the efficacy of using a neuronavigation system for demonstrating the relationship between the basilar artery (BA) and ventricular floor during endoscopic third ventriculostomy (ETV). Material and methods Records of 28 patients (16 females and 12 males) diagnosed with obstructive hydrocephalus who had undergone a neuroendoscopic procedure were retrospectively examined. Patient age ranged from 1 to 76 years (median 24.46 years). The BA was marked with using the neuronavigation system in all cases to visualise its relationship to the floor of the third ventricle in real time. Results ETV was successfully performed in 28 patients with obstructive hydrocephalus. Of these, 13 (46.4%) patients had a thickened tuber cinereum (TC) membrane and 3 (10.7%) showed lateralization of the BA under the ventricular floor. No contact with the BA or related complications (e.g., major bleeding) was encountered with BA marking by using neuronavigation. Conclusion Even though thickening of the TC membrane and/or displacement of the BA might be seen otherwise, we describe a new method that combines marking the BA and using neuronavigation to provide greater safety in the area where the ventriculostomy will be performed. This permits clearer orientation for the surgeon which significantly contributes to minimizing surgical morbidity.

Hypothalamic hamartomas (HH) are rare, non-neoplastic heterotopic tissues which contains normal neurons and glia including oligodendrocytes and fibrillary astrocytes but in an abnormal distribution. They arise from the floor of the third ventricle, tuber cinereum, or mammillary bodies. Estimated incidence ranges from 1 in 50,000 to 1 in 1,000,000. Hypothalamic hamartomas are associated with different clinical presentations including various types of seizures, most characteristically; the gelastic seizures, precocious puberty, cognitive impairment and behavioral changes. In this review, the authors discuss the recent advancements in different modalities of radiotherapy and their application in hypothalamic hamartomas management.

Hypothalamic hamartomas (HH) are rare, non-neoplastic heterotopic tissues which contains normal neurons and glia including oligodendrocytes and fibrillary astrocytes but in an abnormal distribution. They arise from the floor of the third ventricle, tuber cinereum, or mammillary bodies. Estimated incidence ranges from 1 in 50,000 to 1 in 1,000,000. Hypothalamic hamartomas are associated with different clinical presentations including various types of seizures, most characteristically; the gelastic seizures, precocious puberty, cognitive impairment and behavioral changes. In this review, the authors discuss the recent advancements in the medical and surgical management of hypothalamic hamartoma that have been achieved over the past few decades. This review also discusses the advantages and disadvantages of each surgical line of management and factors determining the best individualized approach.

Precocious puberty is the onset of physical and hormonal signs of pubertal development before the age of 9 years in males and 8 years in females. A 2-year 9-month-old Indian male child was brought to the hospital with complaints of excessive growth of pubic hair and increase in penile length for 2 months. On local examination of the genitalia, pubic hair was ++, his penile length was 9 cm, and testicular volume was >4 mL. The Sexual Maturity Rating score was A1P2T4. Serum testosterone levels – 592.76 mmol/L; serum luteinizing hormone – 2.18 IU/L; and serum follicle-stimulating hormone – 4.69 IU/L. His X-ray of the left wrist showed bone age >6 years. Magnetic resonance imaging of the brain showed an ill-defined, T2-hyperintense mass involving the right half of the tuber cinereum. A diagnosis of central precocious puberty due hypothalamic hamartoma was made. During the course of his admission, he was given injection leuprodex 3.75 mg intramuscularly once in 28 days. He was discharged with a plan to follow-up on outpatient basis.

Hypothalamic hamartoma (HH) is one of the most common causes of central precocious puberty (CPP) in first few years of life. It can present with either seizures or CPP, although both manifestations coexist in the majority of the children. Gelastic seizures (GS), or laughing spells, are usually the first type of seizures seen in patients with HH. Although a wide variety of seizure types are known to occur in children with HH, GS are most common and consistent seizure type. The clinical presentation of HH may vary with the size and position of the mass, although large tumours typically present with both CPP and seizures. Although CPP can be managed with medical therapy, seizures can be very difficult to treat, even with multiple antiepileptic drugs. Noninvasive gamma knife surgery has been used with some success for the treatment of refractory epilepsy. We present a case of HH with very early onset seizures and CPP. The patient had an atypical form of seizures described by the parents as aquot;trance-like statequot; in which the patient had prolonged episodes of unresponsiveness lasting for hours with normal feedings during the episodes. GS occurred late in the course and were refractory to various combinations of antiepileptic drugs. A brain magnetic resonance imaging showed a large sessile HH (gt;20 mm). Later in the course of the disease, the patient experienced cognitive and behavioural problems. The patient underwent gamma knife surgery at nearly 5 years of age and experienced a modest response in seizure frequency. This case highlights the presentation of HH as a previously unreported seizure morphology described as a prolongedquot;trance-like state.quot.

Purpose. Intracranial hypotension (IH) often remains undetected using current MR diagnostic criteria. This project aims to demonstrate that central incisural herniation is highly effective in helping to make this diagnosis. Materials and Methods. Magnetic resonance imaging (MRI) was analyzed in 200 normal and 81 clinically known IH patients. MRI reference lines approximating the plane of the incisura, the plane of the diaphragma sella, the plane of the foramen magnum, and the plane of the visual pathway were utilized to measure the position of selected brain structures relative to these reference lines. Results. All IH patients had highly statistically significant (p<0.0001) measurable evidence of downward central incisural herniation when compared to normal controls. The first of the important observations was a downward shift of the mammillary bodies, which shortened the midsagittal width of the interpeduncular fossa cistern. A concurrent downward shift and deformity of the tuber cinereum accompanied the mammillary body shift. The second essential observation was an abnormal clockwise rotation of the long axis of the visual pathway. A severity grading system is proposed based on the extent of these shifts as well as secondary shifts of the brain stem, splenium, and cerebellar tonsils. Conclusion. This study objectively delineates the anatomic shifts of brain structures adjacent to the incisura and foramen magnum. This methodology is sufficient to recognize the features of IH and to stratify the spectrum of IH findings into a functional grading system for quantifying the results of interventional therapy.

Hamartomas of the tuber cinereum is a rare congenital mass lesion more frequently seen in boys, and is located between the mammillary bodies and pituitary stalk. Hamartoma is not a proper tumor but a congenital non-tumor heterotopia. On histology, a hamartoma consists of accumulations of small and large neurons, astrocytes and oligodendrocytes, which are in correct ratio with tuber cinereum tissue (Matsko and Korshunov 1998a, b). They do not invade the surrounding structures, but may progress slowly, sometimes reaching rather large sizes. The most frequent and early clinical manifestation occurs approximately at the age of 2 years: isosexual precocious puberty. Other signs such as epileptic seizures and behavioral changes occur later when a hamartoma acquires a diameter of about 10 mm (Mittal et al. 2013).

The birth of clinical neuroendocrinology can be dated to the year 1900, when the French neurologist Joseph Babinski (1857-1932) described a particular syndrome of adiposity and sexual infantilism in an adolescent with a craniopharyngioma expanding at the base of the brain. This condition of adipose-genital dystrophy, also known as Babinski-Fröhlich syndrome, represented the first clinical evidence that the brain controlled endocrine functions. Adipose-genital dystrophy forms part of infundibulo-tuberal syndrome, which groups the endocrine, metabolic and behavioral disturbances caused by lesions involving the upper neurohypophysis (median eminence) and the adjacent basal hypothalamus (tuber cinereum). This syndrome was originally described by the French neuropsychiatrists Henri Claude (1869-1946) and Jean Lhermitte (1877-1959) in 1917, also in a patient with a craniopharyngioma. This type of tumor involves specifically the infundibulo-tuberal region of the hypothalamus, providing a clinical model to conceptualize the separation of hypophyseal and hypothalamic functions. The French School of Neurology analyzed and reported the symptoms associated with dysfunction of the basal hypothalamus by craniopharyngiomas and other types of tumors, influencing significantly the development of clinical neuroendocrinology. Experimental lesions performed in the tuber cinereum by the French physiologists Jean Camus (1872-1924) and Gustave Roussy (1874-1948) demonstrated unmistakably the anatomical origin of infundibulo-tuberal syndrome in the basal hypothalamus. This article reviews the original findings on infundibulo-tuberal syndrome reported by the French School of Neurology in the first decades of the twentieth century and the great influence this school had on modern conceptions of hypothalamic control over endocrine functions and behavior.

This is a MRI study of two patients presented with history of gelastic seizures since many years ago. Plain and post intravenous gadolinium multiplanar MRI imaging of the brain is performed. It showed well-defined non-enhancing mass lesions in the region of hypothalamus and tuber cinereum. It showed signal intensity similar to the gray matter and imaging diagnosis of hypothalamic hamartoma is made.

Objective Radiologic criteria for a successful endoscopic third ventriculostomy are not clearly defined and there is an ongoing need for determining simplest and strongest radiological criteria for this purpose. This paper aims to determine the easiest radiological parameter related to surgical outcome Methods Between January 2012 and December 2015 all patients receiving endoscopic third ventriculostomy with various indications were reviewed and 29 patients whose preoperative and early postoperative 3D-CISS images were available were studied. There were 13 males and 16 females, and there were 11 pediatric cases (mean age: 9.90 ± 5.2; range: 2–18). The mean age of the entire population was 26.58 ± 18.32 (range: 2–68 years). Measurements were performed using the ruler tool of a freely distributed medical imaging software. Simple ruler measurements of ventricular floor depression, lamina terminalis bowing, anterior commissure to tuber cinereum distance, mamillary body to lamina terminalis distance, third ventricular width, frontal horn width and occipital horn width were recorded and compared between successful and failed interventions. Results Of the ventriculostomies, 22 (75.9%) were considered successful and 7 (24.1%) as failed at the last follow-up visit. Of the measurements performed, only those related to the third ventricle itself were significantly higher in the failed group. There were no association with lateral ventricular measurements. Conclusion Simple ruler measurements of the suggested distances significantly correlate with clinical success. After validating our results with higher number of patients, complex measurements and calculations to determine the link between clinical success and radiological success of ventriculostomy procedures may not be needed.

At the beginning of the twentieth century, the hypothalamus was known merely as an anatomical region of the brain lying beneath the thalamus. An increasing number of clinicopathological reports had shown the association of diabetes insipidus and adiposogenital dystrophy (Babinski-Frohlich's syndrome), with pituitary tumors involving the infundibulum and tuber cinereum, two structures of the basal hypothalamus. The French physicians Jean Camus (1872-1924) and Gustave Roussy (1874-1948) were the first authors to undertake systematic, controlled observations of the effects of localized injuries to the basal hypothalamus in dogs and cats by pricking the infundibulo-tuberal region (ITR) with a heated needle. Their series of surgical procedures, performed between 1913 and 1922, allowed them to claim that both permanent polyuria and adiposogenital dystrophy were symptoms caused by damage to the ITR. Their results challenged the dominant doctrine of hypopituitarism as cause of diabetes insipidus and adiposogenital dystrophy that derived from the experiments performed by Paulescu and Cushing a decade earlier. With their pioneering research, Camus and Roussy influenced the experimental work on the hypothalamus performed by Percival Bailey and Frederic Bremer at Cushing's laboratory, confirming the hypothalamic origin of these symptoms in 1921. More importantly, they provided the foundations for the physiological paradigm of Neuroendocrinology, the hypothalamus' control over the endocrine secretions of the pituitary gland, as well as over water balance and fat metabolism. This article aims to credit Camus and Roussy for their groundbreaking, decisive contributions to postulate the hypothalamus being the brain region in control of endocrine homeostasis and energy metabolism.

A developmentally delayed 28-month-old male toddler was referred to us for brain MRI. Imaging revealed corpus callosum dysgenesis, forniceal hypoplasia, vermian hypoplasia, and hypothalamic dysmorphism characterized by tuber cinereum diverticula. Subsequent chromosomal microarray showed an Xq21 deletion. We present a case of Xq21 deletion syndrome with midline brain anomalies and a novel hypothalamic malformation.