A pathology that raises interest in the field of psychiatry, schizophrenia has suffered, throughout time, numerous modifications concerning taxonomy, diagnostic criteria and treatment. Even though in DSM 4 a new, longitudinal, approach of schizophrenia is presented, there still exist difficulties and contradictions in formulating a diagnosis.
We present the case of a 14 year old patient, diagnosed with hebephrenic schizophrenia in March 2015 and which, currently, isn’t undergoing any antipsychotic treatment due to low treatment compliance and the use of alternative therapies, for the last 2 months. The disease had an insidious onset, for the last approximately 4 years, with social withdrawal and obsessive-compulsive symptoms, anxiety, for which a treatment with Haloperidol was initiated. Subsequently, the symptomatology escalated, with hallucinatory behavior, disorganised behavior, aggression and affective symptoms, for which reason we decided to replace the neuroleptic with an atypical antipsychotic – quetiapine, with a slow improvement of the clinical symptoms. However, the parents decided to slowly decrease the doses of the specific medication, against medical recommendations, the patient becoming catatonic, subsequent to interrupting medication.
The particularity of the case is represented by the late psychiatric intervention, the low compliance to treatment and the polymorphism of symptoms, against antipsychotic treatment.
If in DSM IV-TR, delusions and auditory hallucinations were the basis for diagnostic, in DSM 5 this was replaced with the presence of delusions, hallucinations (of any type) and speech disorganization. Simultaneously, the subtypes of schizophrenia were eliminated, a longitudinal, homogenous approach of symptomatology being preferred, although there still are major difficulties in establishing a diagnostic of schizophrenia .
Schizophrenia with the onset under 13 years (very-early onset) usually manifests itself through anxiety, repetitive behavior, difficulties in relationships with equals and maintaining friendships, speech impairment, neglect of personal hygiene and sudden mood swings. These lead to a severe and precocious cognitive degradation, unlike schizophrenia with onset in adolescence or adulthood .
Concerning etiopathogeny, the discussions are very extensive, with a focus on the genetic component, the heritability of schizophrenia, the imbalance of neurotransmitters, premorbid personality and the stress of the mother during pregnancy . Frequently, as trigger factors we find stress, emotional factors, psychotrauma, environmental changes, use of psychoactive substances .
Brain imaging studies have mentioned a reduction in the cerebral volume, the dilation of ventricles due to the atrophy of the hippocampus and corpus callosum, changes in the thickness of the prefrontal dorsolateral cortex and the decrease in number and function of oligodendroglia, although these changes are not necessary or specific to schizophrenia . However, in patients with schizophrenia, a neuroanatomic dissociation in modulating the signals from the temporal cortex to the inferior frontal one was observed [3 ].
From a genetic point of view, a matching rate was observed, substantially bigger in monozygotic twins as opposed to the dizygotic twins and several genes were highlighted as being associated with the risk of developing schizophrenia, out of these we mention: DISC 1 (disrupted in schizophrenia – 1), BDNF, neuregulin, the gene that codifies the COMT synthesis on the long arm of chromosome 22 and HLA-DR 8. Family studies have shown the presence of the risk to develop the disorder for the first degree relatives of patients with schizophrenia .
Therapeutic options are numerous for this pathology, but current legislation does not allow the use of certain drugs for children with the age under 13 – 15 years. With adequate treatment, the evolution of symptoms may be favorable, with the disappearance of negative and positive symptoms and reintegration in society and family, with a good quality of life .
Without treatment or in the case of low compliance, with frequent adjustments to the therapeutic regimen, contrary to medical counsel, or using alternative, nonspecific and unauthorized therapies, the evolution is unfavorable, with aggravation of symptoms, consequently, with a significant degradation in the quality of life, with major difficulties in social reintegration, making it even impossible .
In the case we presented, we preferred to maintain the diagnostic of hebephrenic schizophrenia, according to ICD-10 (F20.1) criteria, to underline the predominance of affective symptoms and behavioral disorganization, both of which the patient presented throughout time. Considering the catatonic behavior, affirmative, according to her parents declarations, as they are refusing to bring the patient to the clinic, we raise the issue of a new diagnostic with clinical and treatment reevaluation of the patient .
The goal of this current presentation is to underline the diagnostic and treatment challenges faced by clinicians in early forms of schizophrenia, especially in countries with limited resources in positive and differential diagnosis andwith laws that limit the therapeutic act and access to treatment.
Case presentation :
The patient presents herself for the first evaluation in our service at the age of 11, brought by her parents, for the following psychopathological symptoms: disorganized behavior, marked social withdrawal, stereotype, repetitive behavior, checking behavior, excessive personal hygiene, marked anxiety and soliloquy. Affirmative, the symptoms had the onset approximately 4 months before, when the patient was criticized by her Math ’s teacher. Her parents describe her as being, from early childhood, withdrawn, extremely tidy and adherent to routine, fearful, with difficulties in peer relationships and perfectionist. Her school performance was extremely good, until the conflict with the teacher, subsequently her school performance declining, appearing even the refusal to go to school .
Right from the first presentation, we observed the parents ’ rigidity in accepting a psychiatric diagnostic and therapeutic recommendations, the conflictual relationship between them and their high expectations from the patient .
We recommended 1 mg/day of Risperidone, treatment that was followed for 7 months and then interrupted due to high levels of prolactin. The patient started treatment with Haloperidol 2mg/ml, 13 drops/day, with a favorable evolution of symptoms for 4 months .
The treatment was stopped after a year, at the parents ’ initiative, and for the next two years, the patient followed numerous alternative therapies and psychological counselling, with the persistence of symptoms .
When she was 12 years old, after a neurological consult she is diagnosed with Cognitive degradation syndrome, and they recommend a psychiatric consult. Following this, she receives a diagnostic of Discordant Syndrome and it is recommended that she should be admitted to our ward, but her parents refuse the diagnostic and the admittance .
At 13 years, in 2014, she returns as an emergency in our clinic for: disorganized speech and behavior, soliloquy, physical aggression, agitation, social withdrawal, stereotype behavior, suspiciousness, refusal of personal hygiene, onset insomnia, anhedonia, school refusal. She is diagnosed with Acute Psychotic Disorder and the treatment with Haloperidol 2 mg/ml is restarted at 12 drops/day, with Lorazepam 1 mg/day, Carbamazepine 200 mg/day, Romparkin 3 mg/day being added to the treatment scheme, with an improvement of the symptoms for a short period of time, with an accentuation of symptoms afterwards. The patient is released at her parents ’ request .
Affirmative, her parents continue to administer the treatment at home, but the symptoms escalate, returning in emergency in our clinic, in the spring of 20155. The patient is agitated, with marked aggression, destruction of property, voluntary urine and fecal maters emissions, refusal of personal hygiene and refusal to change her clothing, school refusal, self-aggression, affective inversion towards her parents, social withdrawal, coprolalia, checking behaviors, soliloquy, suspiciousness, mannerisms, behavioral and verbal stereotypies, flight of ideas, marked anxiety, apathy, flattening of the affect and inversion of circadian rhythm. Due to the disorganized behavior, the checking behavior and the unfounded laugh we took into consideration the presence of auditory and visual hallucinations .
Over the course of the examination, we observe how the mother forbids the patient to talk about her conversations with the “clairvoyants ” in her closet .
She is diagnosed with Hebephrenic Schizophrenia and the treatment doses are gradually increased: Haloperidol 2 mg/ml to 22 drops/day, Carbamazepine 400 mg/day, Diazepam 5 mg/day, Romparkin 3 mg/day, being released after one month with an improvement in symptomatology .
She returns in emergency after two weeks due to an accentuation of the symptoms described above. The diagnostic is maintained and doses are gradually increased: Haloperidol 2 mg/ml to 30 drops/day, Carbamazepine 600 mg/day, Levomepromazine 50 mg/day, Romparkin 3 mg/day, without a response to treatment .
After her lab results, we decide to gradually interrupt the treatment with Haloperidol 2 mg/ml and to start treatment with Quetiapine, in gradually increased dosage, up to 300 mg/day, with a very slow improvement. She is released with the following treatment: Quetiapine 300 mg/day, Levomepromazine 75 mg/day, Carbamazepine 600 mg/day, Romparkin 3 mg/day, with an improved general state .
She returns for a follow-up after one month to repeat the routine laboratory investigations, needed to monitor the treatment with an atypical antipsychotic (complete blood count, glucose, lipid profile, electrolytes, thyroid hormones, renal function, hepatic function, prolactin, sexual hormones), when the dose for Quetiapine is raised to 400 mg/day .
After that she stops coming to follow-ups, only her parents returning in the clinic, which relate the apparition of catatonic behavior (fixed posture in front of the door or wall, with fixed gaze, refusal of nutrition and liquids, adopting peculiar positions in the bed). Her parents refuse, repeatedly, to admit the patient in our clinic or to bring her in for a consult, relating, afterwards, that they have reduced the medication, eliminating it in the end .
We find out, from the parents, that they had a consult, without bringing the patient to the medic, with an alternative medicine doctor, who recommended a homeopathic treatment, with an aggravation in symptomatology .
From the patient ’s history we retain the fact that her mother had an episode of postpartum depression that she doesn ’t acknowledge, her paternal grandfather was a chronic drinker, and her paternal grandmother is described as “very rigid, dogmatist ”. During her admittance to our ward, her father frequently visits smelling of alcohol .
Since her first presentation in our clinic, the patient presents excessive pilosity on her limbs and white line, excessively represented adipose tissue, superficial lesions on the dorsal side of her hands, post scratching, with a slight stiffness in her joints .
For differential diagnosis and establishing a positive diagnostic, the following laboratory investigations were requested: evaluating the basal metabolism, hepatic function, hormonal evaluation with an endocrinology consult, brain imagery, abdominal echography, electrocardiogram, electroencephalogram, antibodies anti Bartonella and anti Borellia, psychological evaluation. An increase in the values of male sexual hormones was observed, with low levels of female sexual hormones, high values of triglycerides, eosinophilia, with negative values for Bartonella and Borellia antibodies.
At the MRI exam the presence of an arachnoid cyst was observed, in the posterior fossa, on the median line, measuring 15×13 mm, without changes of edema in the adjacent cerebral parenchyma. The FLAIR sequences do not show demyelination lesions or of cerebral edema. There are no displacements of the structures of the median line. The ventricle system is symmetric, non-dilated .
At her psychological evaluation she obtained an IQ = 92 (average intelligence), obtaining higher scores for verbal items comparatively to non-verbal items and a low capacity to concentrate.
The differential diagnosis was made with: cerebral parasitosis, excluded by the brain imagery and the repeated immunological tests; intoxications with lead and other heavy metals, use of psychoactive substances, metabolic diseases (dysfunctionalities in the metabolism of serine and glycine , acute intermittent porphyria, ornithine transcarbamylase deficit, maple syrup urine , congenital hyperammonemia, deficits in homocysteine remethylation ), cerebral tumors, degenerative cerebral disorders, neurosyphilis, epilepsy .
Concerning the differential diagnosis with psychiatric disorders, we considered: the obsessive-compulsive disorder, psychosis due to psychoactive substances or allopathic/ homeopathic treatments [8,9], posttraumatic stress disorder, anxiety disorders, autistic spectrum disorders, depressive disorder with psychotic symptoms, bipolar affective disorders, schizoaffective disorder, dissociative disorders.
We opted for a multimodal therapeutic approach, combining pharmacological treatment with psychosocial, psychoeducational and psychotherapeutic interventions. Thus, we counseled the family regarding the diagnostic, means of treatment and treatment’s objectives, the evolution and prognosis with and without treatment, the management of the patient’s disruptive behavior and we have realized, together with the parents, a therapeutic plan, which the accepted initially, but which they abandoned on the way.
An efficient familial reintegration of the patient was tried, the school reintegration was postponed for a year, due to the patient’s persistent refusal to get close to the school’s building and repeated tries were made to anchor her in reality. To facilitate social reintegration, one might use animal therapy, occupational therapy, group psychotherapy. We have recommended family therapy and the patient’s psychological counseling, without these indications to be followed by the family.
Concerning pharmacological treatment, we do not have the certainty that it was administered at home according to the doctor’s recommendations and we cannot pronounce ourselves on its efficacy. We are taking into account, initially, a possible adjustment to the quetiapine doses, and, in the case of its’ inefficacy during 6-12 weeks, we are considering switching to another atypical antipsychotic (olanzapine or aripiprazole), and, as a last resort, clozapine.
Although specialty literature recommends the association of electroconvulsive therapy as a last therapeutic mean in forms of schizophrenia resistant to treatment, the new treatment guidelines consider this option obsolete, medically and ethically [7, 10, 11].
Taking into account the lack of treatment compliance, the parents’ refusal to accept the diagnostic and the refusal to bring the patient for her follow-ups, we are consider requesting the intervention of child protection services and the patient’s admittance, for a determined period of time, to a ward for monitoring chronic patients.
Currently, the prognosis in unfavorable due to the lack of specific psychiatric treatment, the patient undergoing only homeopathic treatment.
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