Role of optic microscopy for early diagnosis of Menkes disease

Vol. 55 No. 3 Suppl., 2014
This supplement was not sponsored by Outside Organizations.


Dana Craiu, Stephen Kaler, Mihai Craiu

We report the case of a male patient with a normal development in the first three months of life, presenting for global regression, central axial hypotonic syndrome, pyramidal syndrome, focal epileptic seizures, and a particular aspect of the hair - almost absent, short, sparse, lightly colored, at age of five months, becoming coarse, twisted (kinky hair) by the age of 21 months. Different diseases associate similar neurological and macroscopic aspect of the hair (biotinidase deficiency, argininosuccinic aciduria, aminoaciduria, giant axonal neuropathy, trichothiodistrophy and Menkes syndrome). The microscopic aspect of the patient s hair showing normal hair, silver colored hair, hair shafts twisting 1800, trichoclasis, and trichoptilosis, was highly characteristic for Menkes disease. Diagnosis was further supported by the low concentration of serum copper and ceruloplasmin and exclusion of other metabolic disorders with similar macroscopic aspect of the hair. Molecular genetic testing by multiplex PCR indicated deletion of exon 22 in the ATP7A gene situated in Xq21.1 region, consistent with the clinical and biochemical phenotype. Physicians should use microscopic evaluation of the hair more often when suspicion of Menkes disease is raised, aiming a narrow further diagnostic workup and early positive diagnosis and genetic advice for the affected families.

Corresponding author: Dana Craiu, Associate Professor, MD, PhD; e-mail:

Download PDF


Adela Magdalena Ciobanu, Tatiana Rosca, Camelia Teodora Vladescu, Cecilia Tihoan, Mihaela-Camelia Popa, Monica Claudia Boer, Romica Cergan

A 37-year-old male has left exophthalmia, which gradually evolved in the last two years, finally with a deviation of left eye (LE), down side and out, with gradually decrease of visual acuity (VA). These symptoms are accompanied with headache and psychiatric manifestations with irritability, decreased attention, anxiety, insomnia, depressed mood. Brain Computed Tomography (CT) shows a tumor mass in air leakage sinus, bilateral frontal and bilateral ethmoidal, with left orbital invasion. This tumor mass lysis by pressure the supero-posterior wall of the left orbit, with the delimitation of a frontal epidural process with a capsule and calcifications. Additionally, it has been shown there is a bilateral maxillary sinusitis. The surgical intervention removed the infection focal spots rearranging the left eyeball, recovering the VA. The sinuses were drained. The psychiatric symptoms in the post operatory phase disappeared. Histopathological examination of the excised tissue revealed sinus ciliated respiratory mucosa with mixed acute and chronic inflammatory infiltrate and focal squamous metaplasia. The lamina propria is edematous and contains large numbers of neutrophils, lymphocytes and plasma cells. Histopathological diagnosis is acute and chronic sinusitis. Conclusions: An untreated infection of the aerial sinuses can lead to a complication like Pott s puffy tumor. When signs such as ophthalmologic, psychiatric and intense headaches appear, it suggests the presence of the Pott s puffy tumor (PPT). The clinical signs are reversible once the tumor has been removed.

Corresponding author: Adela Magdalena Ciobanu, Lecturer, MD, PhD; e-mail:

Download PDF
Download cover
Download contents

Journal archive