Septo-optic dysplasia: fitting the pieces together

Abstract

A 7-year-old boy was admitted for a general tonic-clonic seizure with severe hypoglycaemia (1.39 mmol/l). His medical history was remarkable for a congenital left eye strabismus, unilateral cryptorchidism and three previous episodes of hypoglycaemic seizures with inconclusive metabolical and neurological investigations. Physical examination revealed a hoarse tone voice, dry skin, cold extremities and height in the third percentile (target height between 50th and 85th percentile). Left wrist radiography revealed a bone age of 4.5 years ±6 months Laboratory studies confirmed growth hormone deficiency and central hypothyroidism. The brain MRI showed an ectopic neurohypophysis. Neuroophthalmology investigation revealed left optic nerve hypoplasia and septo-optic dysplasia was then diagnosed. Thyroid and recombinant growth hormone replacement were started showing clinical improvement. A detailed clinical history and a careful physical examination in children presenting with multiple clinical signs of hypopituitarism may lead to a timely diagnosis, avoiding clinical morbidity associated to untreated hormonal abnormalities.

Diagnostic accuracy and clinical outcomes associated with prenatal diagnosis of fetal absent cavum septi pellucidi

“…One patient with SOD also had endocrine dysfunction (case 13), likely related to an ectopic posterior pituitary lobe as seen on postnatal imaging (Figure ). Abnormal posterior migration such as ectopic posterior pituitary lobe can be seen with HESX1 mutations and midline anomalies such as corpus callosal agenesis, absent CSP, and optic pathway abnormalities . Of those without a diagnosis of SOD (8/10), one had oculomotor dysfunction but normal appearing optic nerves.…”

“…Abnormal posterior migration such as ectopic posterior pituitary lobe can be seen with HESX1 mutations and midline anomalies such as corpus callosal agenesis, absent CSP, and optic pathway abnormalities. [12][13][14][15] Of those without a diagnosis of SOD (8/ 10), one had oculomotor dysfunction but normal appearing optic nerves. The remaining patients (7/10) had no visual or endocrine impairment.…”

Septooptic Dysplasia with an Associated Arachnoid Cyst

“…The underlying pathogenic process of SOD remains unclear but is thought to be related to the holoprosencephaly spectrum [9, 12–14]. The vast majority of cases are sporadic; however rare familial cases have suggested a connection to HESX1 which is a homeobox gene involved in the development of the prosencephalon and is a marker of pituitary development [15].…”

Six adult patients with septo-optic dysplasia and drug-resistant epilepsy: Clinical findings and course

“…Septo-optic dysplasia (SOD) is an uncommon developmental anomaly, initially described in 1941 [1] and again in 1956 [2] , that has an estimated incidence of roughly one per 10,000 live births [3] . Occurring in both males and females, it is classically characterized by the triad of optic nerve hypoplasia; midline brain abnormalities that include the absence of the corpus callosum and septum pellucidum; and hypothalamic-pituitary endocrine deficiencies [4] , [5] , [6] . However, it also appears in conjunction with a wide variety of cerebral anomalies, albeit most consistently with schizencephaly [7] , [8] , [9] , [10] , [11] , [12] , [13] , such that the term SOD-Plus was recently proposed to describe SOD associated with cortical dysplasia [8] .…”

“…The clinical presentation of SOD can range from mild to no symptoms [14] , [15] to severe developmental delay and incompatibility with life. It also can be associated with mild to severe visual impairment, sensorineural hearing loss, and a range of other symptoms and signs that include a variety of endocrine disorders including precocious puberty, dwarfism and diabetes insipidus; other skeletal abnormalities; anosmia; and a range of cardiac anomalies, among others [5] , [7] , [8] , [10] , [16] , [17] , [18] , [19] , [20] , [21] , [22] . Seizures have also been described, which range from infantile spasms [23] , [24] , [25] to a variety of drug-resistant epilepsies presenting either during childhood or adulthood [4] , [5] , [9] , [11] , [13] , [19] , [20] , [26] , [27] , [28] , [29] , [30] , [31] .…”