Pituitary dysfunction, morbidity and mortality with congenital midline malformation of the cerebrum

Cameron, F. J.; Khadilkar, Vaman; Stanhope, R

doi:10.1007/s004310051026

Cited by 79 publications

(51 citation statements)

References 23 publications

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“…Anterior pituitary dysfunctions such as growth hormone deficiency, central hypothyroidism, and hypocortisolism were previously observed, and diabetes insipidus was also identified as a common problem. Endocrinopathies were evident in 28.6% of the surviving patients in this study, which is lower than in the results of a study that reported a prevalence of 59% [28]. This finding may be attributable to the relatively shorter period of observation and higher ratio of milder holoprosencephaly types than was described in the study mentioned above [28].…”

Section: Discussioncontrasting

confidence: 81%

Clinical Features and Outcomes of Holoprosencephaly in Korea

Kim

2010

Pediatric Neurology

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Section: Discussioncontrasting

confidence: 81%

Clinical Features and Outcomes of Holoprosencephaly in Korea

Kim

2010

Pediatric Neurology

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“…Pituitary hypoplasia manifests itself in different degrees of hormone deficiency, from a single hormone deficit to panhypopituitarism 4,5,7,11,19,24,25 . The deficiencies also can evolve gradually over time 7,18,25 .…”

Section: Pituitary Hormone Deficiencymentioning

confidence: 99%

“…The deficiencies also can evolve gradually over time 7,18,25 . Growth hormone (GH) deficiency is the most common, followed by adrenocorticotropic hormone (ACTH) and tireotrophic hormone (TSH) deficiencies 21,24 . Gonadotrophic function is generally preserved 26 and diabetes insipidus is found more rarely 5,26 .…”

Section: Pituitary Hormone Deficiencymentioning

confidence: 99%

“…About 60% of the patients with bilateral ONH have some kind of neurological disorder, but the prevalence of developmental delay, mental retardation, cerebral palsy and seizures is not a consensus according to different studies 17,22 . Hydrocephalus or a seizure disorder are more frequently seen in patients with developmental delay 24,25 . Seizures and developmental delay can occur due to metabolic and/or neuroanatomical disorders present in patients with SOD, especially in cases with associated hypoglycemia or hypernatremia 24 .…”

mentioning

confidence: 99%

“…Hydrocephalus or a seizure disorder are more frequently seen in patients with developmental delay 24,25 . Seizures and developmental delay can occur due to metabolic and/or neuroanatomical disorders present in patients with SOD, especially in cases with associated hypoglycemia or hypernatremia 24 .…”

mentioning

confidence: 99%

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Septo-optic dysplasia

Ferran

Paiva

Gilban

et al. 2010

Arq. Neuro-Psiquiatr.

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Septo-optic dysplasia (SOD), also referred to as de Morsier syndrome, is a rare congenital condition, characterized by two of the classic triad features: midline brain abnormalities, optic nerve hypoplasia (ONH) and pituitary endocrine dysfunction. We report 5 children with SOD, originally referred to be evaluated due to short stature, who also presented bilateral optic nerve hypoplasia, nystagmus and development delay. In 4 of the patients, we identified neuroimaging abnormalities of the hypothalamo-pituitary axis such as anterior pituitary hypoplasia (3/5), ectopic posterior pituitary (4/5), thin or absent stalk (3/5) and empty sella (1/5). We also encountered diverse pituitary deficiencies: growth hormone (3/5), adrenocorticotropic hormone (3/5), thyroid-stimulating hormone (2/5) and antidiuretic hormone (1/5). Only one child presented intact pituitary function and anatomy. Although rare, SOD is an important cause of congenital hypopituitarism and it should be considered in children with optic nerve hypoplasia or midline brain abnormalities for early diagnosis and treatment. Key words: septo-optic dysplasia, optic nerve/abnormalities, hypopituitarism. Displasia septo-óptica resumoA displasia septo-óptica (DSO, síndrome de Morsier) é uma condição congênita rara definida por dois critérios da tríade: defeitos de linha média, hipoplasia de nervo óptico e insuficiência hipotálamo-hipofisária. Descrevemos 5 casos de DSO, encaminhados por baixa estatura, com hipoplasia dos nervos ópticos, nistagmo e atraso global do desenvolvimento. Destes, 4 possuem alteração na ressonância magnética de sela túrcica e insuficiência hipotálamo-hipofisária, tendo sido observada adeno-hipófise hipoplásica (3/5), neuro-hipófise ectópica (4/5), haste afilada/ausente (3/5) e sela vazia (1/5), além de déficit dos eixos somatotrófico (3/5), adrenocorticotrófico (3/5), tireotrófico (2/5) e do hormônio antidiurético (1/5). Apenas um paciente não apresenta alteração anatômica ou funcional do eixo hipotálamo-hipofisário. Embora rara, a DSO é causa importante de hipopituitarismo congênito, devendo ser considerada em crianças com hipoplasia de nervo óptico ou defeito de linha média para seu diagnóstico e tratamento precoces, evitando seqüelas graves. Palavras-chave: displasia septo-óptica, nervo óptico/anormalidades., hipopituitarismo.

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Clinical and Biochemical Features of Hypopituitarism Among Brazilian Children With Zika Virus–Induced Microcephaly

et al. 2021

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IMPORTANCE The Zika virus infects progenitor neuron cells, disrupts cerebral development, and, in mice, drives hypothalamic defects. Patients with microcephaly caused by congenital Zika infection present with midline cerebral defects, which may result in hypopituitarism. OBJECTIVE To analyze postnatal growth and the presence of clinical and biochemical features associated with hypopituitarism in children with congenital Zika infections. DESIGN, SETTING, AND PARTICIPANTS In this prospective cohort study at 2 public referral hospitals in Bahia, Brazil, specializing in the treatment of congenital Zika infection, clinical data and growth parameters of 65 patients with the infection were evaluated. Data were analyzed from April 2017 through July 2018. EXPOSURE Congenital Zika infection. MAIN OUTCOMES AND MEASURESLength, weight, and head circumference were measured at birth and during follow up (ie, at 27 months of life) for each patient. Basal levels of free thyroxine, thyrotropin, cortisol, corticotropin, prolactin, insulin-like growth factor 1, insulin-like growth factor binding protein 3, urine and plasma osmolality, electrolytes, glucose, and insulin were evaluated at the age of 26 months to 28 months. All patients underwent central nervous system computed tomography scans and ophthalmic and otoacoustic evaluations at the time of this investigation or had done so previously. RESULTSAmong 65 patients (38 [58.4%] male; median [interquartile range] age at enrollment, 27 [26-28] months), 61 patients presented with severe brain defects (93.8%), including corpus callosum agenesis or hypoplasia (ie, midline brain defects; 25 patients [38.5%]) and optic nerve atrophy (38 patients [58.5%]). Most patients presented with severe neurodevelopmental delay (62 of 64 patients [96.9%]). Past or present clinical signs of hypopituitarism were rare, occurring in 3 patients (4.6%). Severe microcephaly, compared with mild or moderate microcephaly, was associated with a shorter length by median (interquartile range) z score at birth

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Pituitary dysfunction, morbidity and mortality with congenital midline malformation of the cerebrum

Cited by 79 publications

References 23 publications

Clinical Features and Outcomes of Holoprosencephaly in Korea

Clinical Features and Outcomes of Holoprosencephaly in Korea

Septo-optic dysplasia

Clinical and Biochemical Features of Hypopituitarism Among Brazilian Children With Zika Virus–Induced Microcephaly

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