Kursat Bora Carman

Breath holding spells: Point prevalence and associated factors among Turkish children

Breath holding spells (BHS) are known as paroxysmal non‐epileptic disorder. There are two subtypes of BHS: cyanotic and the pallid. BHS have been reported to occur in 0.1–4.6% of children in Western countries. Although it is easy to diagnose in its typical form, the data on prevalence of BHS are insufficient in developing countries.

Infant with chromhidrosis

Apocrine chromhidrosis is the secretion of colored sweat by the apocrine glands. The color of the sweat varies. Apocrine chromhidrosis may develop at any age but it is observed more often after puberty. We report an infant with chromhidrosis. A 9-month-old girl presented with a history of staining of her undershirt, especially the axillary region. This coloration was present for 3 months after complementary feeding was started. She was born after a normal pregnancy from non-consanguineous parents. She had no history of drug use or illness. She was fed with human milk for 6 months then complementary feeding was started. On physical examination it was noticed that her undershirt was bluish colored (Fig. 1). The rest of the physical examination was normal. Routine laboratory investigations were normal. Urinary homogentisic acid level was within normal limits. No heavy metal or toxin was found in analysis of the tap water. Microbiological examination of her skin revealed normal skin flora. Apocrine chromhidrosis refers to the secretion of colored sweat. Apocrine sweat glands are located in the axillae, anogenital skin, areolae and over the skin of the trunk, face and scalp. The color of chromhidrosis may be yellow, green, blue, brown or black, depending on the level of oxidation of lipofuscin secreted in sweat. Darker colors are due to higher states of oxidation. The chromhidrotic apocrine glands have elevated levels of lipofuscins that cannot be explained by dietary or metabolic alterations. However it was seen that the chromhidrosis of our case was recognized after the addition of complementary food to her diet. This condition might be a coincidence. Sex, occupation, season and climate have no influence on chromhidrosis. Pseudochromhidrosis may be accidental or occupational and occur from surface compounds or molecules mixed with sweat, giving the sweat a specific color. Toxins or heavy metals were not found in the tap water. The chromhidrosis of our patient was detected after complementary food was started. The modification of her diet does not cause any change in the color of her sweat. The differential diagnosis includes hyperbilirubinemia, pseudomonas infection, bleeding diathesis, alkaptonuria and poisoning. Chromhidrosis persists throughout life, but slow regression of the disease is noted, as apocrine glands regress with time. Apocrine chromhidrosis has no satisfactory treatment. Temporary, successful treatments of apocrine chromhidrosis with capsaicin cream and botulinum toxin were reported. We did not apply any treatment modality. In conclusion, although apocrine chromhidrosis may develop at any age, it is more often after puberty. Our patient was chromhidrotic for 3 months. To the best of our knowledge, our 9-monthold patient might be the youngest case in the literature.

Co-existence of acute transverse myelitis and Guillain–Barré syndrome associated with Bartonella henselae infection

Abstract Cat scratch disease (CSD) is a benign, self-limiting condition associated with Bartonella henselae. Neurological manifestations are uncommon. Acute transverse myelitis and Guillain–Barré syndrome have been reported rarely with CSD. This report describes a 12-year-old boy with acute transverse myelitis and Guillain–Barré syndrome associated with CSD.

MIDAS (microphthalmia, dermal aplasia, sclerocornea) syndrome with central nervous system abnormalities.

Introduction MIDAS syndrome is an acronym for microphthalmia, dermal aplasia, and sclerocornea. It is characterized by microphthalmia and linear skin defects usually located on the face and neck characterized by areas of aplastic skin which heal to form hyperpigmented areas. Additional features include sclerocornea, corneal opacities, cardiac anomalies, nervous system anomalies such as agenesis of corpus callosum, ventriculomegaly, microcephaly, mental retardation and infantile seizures (Jones, 2006). MIDAS syndrome occurs mainly in females, it is likely to be lethal in hemizygous males. The majority of patients with MIDAS syndrome are observed to have deletions or unbalanced translocations involving the distal short arm of the X chromosome (Xp22.3) (Morleo et al., 2005). We report here a girl, who shows stigmata of MIDAS syndrome with central nervous system involvement.

Essential Palatal Tremor Treated With Botulinum Toxin

Palatal tremor is a rare movement disorder characterized by rhythmic movement of the soft palate. There are two subtypes: essential and symptomatic palatal tremor. Essential palatal tremor is characterized by tinnitus and an absence of other neurological deficits. Different treatment options have been used to treat palatal tremor, with varying success rates. Here we describe a patient with essential palatal tremor and who was treated with botulinum toxin injections.

Glutaric aciduria type 1 presenting as subdural haematoma.

Glutaric aciduria type 1 (GA1) is an autosomal recessive disorder caused by deficiency of glutaryl CoA-dehydrogenase. The metabolism of lysine, hydroxylysine and tryptophan is blocked, leading to accumulation of glutaric acid (GA) and increased urinary concentrations of GA and 3-hydroxy GA. Onset usually involves an acute encephalopathic episode in a macrocephalic infant, associated with fever. Unlike other organic acidemias, metabolic and lactic acidosis, hyperammonemia and hypoglycaemia are rarely present. Subsequently, there is gross motor delay with marked dystonia-dyskinesia. Subdural haematoma is a rare presenting feature of GA1. We report a case who presented with subdural haematoma and diagnosed as GA1. A 17-month-old girl presented to emergency department with minor head trauma. She had fallen down a chair. Her initial neurological examination was completely normal in the emergency unit. She had a generalised seizure. Computerised brain tomography revealed subdural haematoma and she was operated on. During follow-up, her muscle tone increased gradually and previosuly achieved developmental milestones lost. At the age of 24 months, she was unable to sit and walk. Brain magnetic resonance imaging showed bilateral temporal atrophy (Fig. 1). In tandem mass spectrometry, low free carnitine [(5.6 mmol/L) (N:10–60)] and high C5 DC glutarile carnitine [(0.71 mmol/L) (N:0.0–0.40)] levels were detected. Urine organic acid analysis revealed a 20-fold increase in the GA level. With the help of these findings, GA1 was diagnosed. The child was commenced on a reduced lysine/tryptophan diet with carnitine supplementation. GA1 is a relatively rare disease and the ‘typical’ presentation is within the first 12 months of life of an acute metabolic encephalopathic crisis followed by loss of motor skills and development of a dystonic-dyskinetic movement disorder. The presence of acute and chronic subdural collections has been reported in 20% to 30% of patients with GA1 and might be the presenting feature. The pathogenesis of subdural haematomas in GA1 is unclear. It was hypothesised as caused by expanded extra-axial cerebrospinal fluid spaces that result in stretching of the bridging cortical veins. Consequently, patients are prone to developing subdural haemorrhages after minor trauma. In the absence of a history of adequate trauma, the presence of subdural collections of may lead clinicians to suspect nonaccidental trauma in a child with undiagnosed GA1. In our case with minor trauma, subdural haematoma was detected by brain tomography and magnetic resonance imaging showed temporal atrophy, which is the most frequent radiological feature of GA1. The diagnosis of GA1 explained the subdural haematoma. The case is being presented to emphasise that subdural haematoma might be an initial feature of GA1 in children.

Nonconvulsive status epilepticus due to drug induced neurotoxicity in chronically ill children

Nonconvulsive status epilepticus (NCSE) is a specific form of status epilepticus and is defined as epileptic activity on an EEG without seizures and as an alteration in mental status lasting more than 30 min. NCSE may be caused by drugs, cerebrovascular events, metabolic disorders or toxins. Herein, we present four cases of patients with drug-induced NCSE who were chronically ill due to renal failure or childhood leukemia. NCSE should be suspected in patients with an altered mental status without clinical seizures who are being treated with multiple drugs.

Septo-optic dysplasia plus: a patient with diabetes insipidus.

The association of septo-optic dysplasia and cortical dysplasia is described as septo-optic dysplasia-plus. Reports on patients with septo-optic dysplasia-plus have been rare. We describe a 4-year-old girl with septo-optic dysplasia-plus syndrome, characterized by septo-optic dysplasia with schizencephaly, pachygyria, and diabetes insipidus.

Marcus Gunn jaw winking synkinesis: report of two cases

Marcus Gunn jaw winking synkinesis (MGJWS) is caused by congenital miswiring of a branch of the fifth cranial nerve into the branch of the third cranial nerve supplying the levator muscle. It has been observed in 2–13% of patients with congenital ptosis. Although bilateral cases were reported, most were unilateral and occurred more frequently on the left side than the right. We report two cases of children who presented with ptosis and were diagnosed with MGJWS.

Evaluation of Pediatric Stroke Patients

Objective: Childhood stroke is common than expected due to increased availability of imaging studies. We aim to evaluate clinical and radiologic findings of stroke. Method: In this study 23 children (15 boys, 8 girls) aged 3 months to 17 years were included. Clinical findings and etiologic causes of the patients with radiologic confirmed stroke and treatment options are considered. Result: Clinical signs of our patients include hemiparesis, seizure, speech disturbance, headache, facial nerve palsy, confusion, cerebellar signs, syncope, visual field defect, headache. Most frequent presenting symptoms are hemiparesis and seizure. Conclusion: In our study most frequent risk factors are prothrombic states, infection, vasculopathy, cardiac disease, trauma, vascular malformation respectively.