Tuberous sclerosis complex manifests predominantly as a neurocutaneous disorder Lung involvement was considered rare. Lymphangioleiomyomatosis which occurs mainly in women of childbearing age is the major pulmonary disorder seen in tuberous sclerosis. Multifocal micronodular pneumocyte hyperplasia has also been described in tuberous sclerosis. The case of a 51-year old female diagnosed with tub...

Epidermal nevus syndrome is a kind of neurocutaneous syndrome that is associated with epidermal nevus and a variety of congenital CNS disorders. Clinical presentations include seizures, paresis, mental retardation, and developmental delay. We report three cases with MR imaging and magnetoencephalography findings; one patient underwent ictal and interictal single photon emission CT. Both structu...

A 15-month-old girl presented with developmental delay, intractable right focal motor seizures, hyperpigmented patch on the left side of the face, facial asymmetry, and right hemiparesis (figure 1). A diagnosis of linear nevus sebaceous syndrome (LNSS) was considered. Brain MRI revealed hemimegalencephaly (figure 2). EEG showed spike/wave discharges in left occipital leads. Ophthalmologic and s...

Our patient was worked up for mild developmental delay associated with focal scalp alopecia at age 6, and was diagnosed with encephalocraniocutaneous lipomatosis (also known as Haberland or Fishman syndrome), a rare neurocutaneous syndrome characterized by skin lesions (most commonly focal alopecia with or without underlying lipoma), ocular lesions, and CNS anomalies. CNS anomalies are usually ...

Sjögren-Larsson syndrome (SLS) is an autosomal recessive neurocutaneous disorder most commonly seen in the Scandinavian population and characterized by congenital ichthyosis, mental retardation, and spastic diplegia or quadriplegia. We report a case of SLS in an 11-month-old girl of Lebanese and Mexican-Syrian ancestry who presented with ichthyosis, developmental delay, and spasticity. Results ...

Abstract Background Tuberous sclerosis is an autosomal dominant neurocutaneous disorder characterized by hamartoma formation in various organ systems leading to highly variable clinical presentation. These patients pose a challenge anesthesiologists due multisystem involvement. Case presentation Herein, we report the successful anesthetic management of 25-year-old parturient with tuberous who u...

A 19-year-old man with refractory generalized epilepsy related to tuberous sclerosis complex (TSC) (figure 1) complained of chronic left facial swelling. Physical examination disclosed typical mucocutaneous findings of TSC (hypomelanotic macules, shagreen patch, ungual fibromas, facial angiofibromas) and a hardened well-limited mass in his left maxilla, evidenced as an odontogenic extensive lef...

Neurofibromatosis type I (NF1) is a neurocutaneous disorder that involves autosomal dominant transmission. Skull defects, including sphenoid dysplasia and calvarial defects, are a rare finding in patients with NF1. Spinal meningocele and sphenoid wing dysplasia have been identified in NF1 but the occurrence of meningoceles at the skull base is extremely rare. A rare instance of jugular foramen ...

Encephalocraniocutaneous lipomatosis or Haberland syndrome is a rare, congenital neurocutaneous syndrome. It is characterized by unilateral lipomatous hamartomata of the scalp, eyelid, and outer globe of the eye and ipsilateral neurologic malformations. We describe the first case from Lebanon, an infant with classical encephalocraniocutaneous lipomatosis characterized by nevus psiloliparus, uni...

Sjögren-Larsson syndrome (SLS) is a rare autosomal recessive neurocutaneous disorder caused by deficiency of the microsomal enzyme fatty aldehyde dehydrogenase. Patients present the classical triad of congenital ichthyosis, mental retardation and spastic di- or tetraplegia. Magnetic resonance imaging (MRI) of the brain usually shows hypomyelination involving the periventricular white matter. Ce...